/ en /news/ancient-dna-reveals-possible-origin-racialethnic-disparity-childhood-cancer <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and 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text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Tue, 26 Mar 2024 18:56:00 +0000 tulrich@broadinstitute.org 5556726 at /news/approach-studies-how-rare-gene-variant-pairs-contribute-disease <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" 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<source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx" width="220" height="186" alt="Manhattan plot" title="Manhattan plot" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/medical-population-genetics" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Medical and Population Genetics Research</span> </a> </div> </article> </div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Thu, 07 Dec 2023 17:04:15 +0000 tulrich@broadinstitute.org 5556176 at /news/using-76000-genomes-researchers-build-new-map-regions-human-genome-under-natural-selection <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link 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type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=CUrw1aPS 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=Pu16Rf6_ 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=Pu16Rf6_ 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=f7ze3svk 1x" media="all and (min-width: 540px) and (max-width: 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text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Thu, 07 Dec 2023 17:00:10 +0000 tulrich@broadinstitute.org 5556181 at /news/new-method-prenatal-genetic-testing-relies-just-blood-draw <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source 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<source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Thu, 23 Nov 2023 14:00:46 +0000 tulrich@broadinstitute.org 5556106 at /news/cellular-atlas-built-guide-precision-treatment-rheumatoid-arthritis <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" 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<source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx" width="220" height="186" alt="Manhattan plot" title="Manhattan plot" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/medical-population-genetics" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Medical and Population Genetics Research</span> </a> </div> </article> </div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Tue, 07 Nov 2023 22:33:23 +0000 tulrich@broadinstitute.org 5555981 at /news/whyiscience-qa-computational-biologist-helps-build-datasets-genetic-disease-diagnosis <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link 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text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Thu, 17 Aug 2023 13:27:18 +0000 Corie Lok 1282671 at /news/nuclear-dna-influences-variation-mitochondrial-dna <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source 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srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" 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field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Wed, 16 Aug 2023 15:00:00 +0000 adicorat 1282596 at /news/researchers-discover-new-risk-factor-liver-disease <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source 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<source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx" width="220" height="186" alt="Manhattan plot" title="Manhattan plot" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/medical-population-genetics" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Medical and Population Genetics Research</span> </a> </div> </article> </div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Wed, 12 Apr 2023 15:00:00 +0000 adicorat 1281941 at /news/blood-stem-cells-are-susceptible-ferroptosis-type-cell-death <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source 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<source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx" width="220" height="186" alt="Manhattan plot" title="Manhattan plot" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/medical-population-genetics" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Medical and Population Genetics Research</span> </a> </div> </article> </div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Thu, 16 Feb 2023 16:00:00 +0000 adicorat 1281686 at /news/rare-genetic-variants-can-reveal-much-about-disease-biology <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Tom Ulrich</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" class="datetime">March 26, 2024</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-system block-system-breadcrumb-block"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodelong-storytitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Ancient DNA reveals possible origin of a racial/ethnic disparity in a childhood cancer</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodelong-storybody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)</p> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodelong-storyextra-field-author-custom"> By Gina Mantica, Dana-Farber/Boston Children's Cancer and Blood Disorders Center </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodelong-storycreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2024-03-26T14:56:00-04:00" title="Tuesday, March 26, 2024 - 14:56" class="datetime">March 26, 2024</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodelong-storyfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1921px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=Fau3NDK4 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=2six0XXq 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=QKYRAYZX 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=DyqU7CjE 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH 1x" media="all and (max-width: 539px)" type="image/png" width="499" height="294"> <img loading="eager" src="/files/styles/multiple_ct_header_phone/public/longstory/ALL_Jacob%20Bledsoe_BCH%20Pathology_crop.png?itok=jn95d1cH" width="499" height="294" alt="Acute lymphoblastic leukemia cells, stained pink-purple" title="Acute lymphoblastic leukemia cells, stained pink-purple" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Jacob Bledsoe, BCH </div> <div class="media-caption__description"> B-ALL cells </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" 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srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=CUrw1aPS 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=Pu16Rf6_ 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=Pu16Rf6_ 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=f7ze3svk 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/2022-11/Manhattan_Ó³»­´«Ã½Grey.png?h=5f172594&amp;itok=QBIwqszx" width="220" height="186" alt="Manhattan plot" title="Manhattan plot" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/medical-population-genetics" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Medical and Population Genetics Research</span> </a> </div> </article> </div> </div> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--sidebar-articles sidebar-articles"> <div class="sidebar-articles__col"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Related news</p> </div> <div class="field field--name-field-content-reference field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><article about="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"><article class="media media--type-image media--view-mode-multiple-ct-sidebar-link-with-image"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases"><picture> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1921px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop_xl/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=w3JG2OR- 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/png" width="104" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_desktop/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=q-Ms2LSk 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/png" width="87" height="104"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_tablet/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=N3cQo0rz 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/png" width="285" height="186"> <source srcset="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT 1x" media="all and (max-width: 539px)" type="image/png" width="220" height="186"> <img loading="eager" src="/files/styles/multiple_ct_sidebar_link_with_image_phone/public/news/images/2020/Blood_cells_GA.png?h=d3e04ee7&amp;itok=rYeLLTrT" width="220" height="186" alt="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" title="Illustration of blood cells in the bone marrow. (Credit: &lt;a href=&quot;https://www.bartleby.com/107/illus72.html&quot; target=&quot;_blank&quot;&gt;Gray's &quot;Anatomy of the Human Body,&quot; 1918&lt;/a&gt;" typeof="foaf:Image"> </picture></a> </div> </article> </div> <div class="node__content"> <a href="/news/genetic-information-can-predict-predisposition-rare-and-common-blood-diseases" class="node__title"><span class="field field--name-title field--type-string field--label-hidden">Genetic information can predict predisposition to rare and common blood diseases</span> </a> </div> </article> </div> </div> </div> </div> </div> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>People who identify as Hispanic/Latino have the highest risk of a blood cancer called acute lymphoblastic leukemia (ALL) compared to other populations in the US, with 40 percent more Hispanic/Latino children being diagnosed than non-Hispanic white children. &nbsp;However, the basis for this difference is not well understood.&nbsp;</p> <p>Researchers have identified a genetic variant in people with Indigenous American ancestry that may account for the increased risk of ALL in Hispanic/Latino children, who have more of this ancestry than other populations. The team analyzed ancient DNA and traced the variant all the way back to the first people to enter the Americas about 13,000 years ago.</p> <p>"We were able to use genetic studies in diverse populations to identify this new risk factor that explains some of the population differences in ALL risk," says Vijay Sankaran, a lead author of the study, a physician-scientist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and an associate member in the <a href="/node/8507">Program in Medical and Population Genetics</a> at the Ó³»­´«Ã½ of MIT and Harvard. The findings were published in <a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank"><em>Cell Genomics</em></a> and are the result of a close collaboration with colleagues at the University of Southern California.&nbsp;</p> <p>Sankaran and colleagues employed genome-wide association studies GWAS to look for genetic mutations contributing to racial/ethnic differences in a subtype of ALL that affects the development of immune cells called B cells. The team discovered that the genetic variant reduces the expression of a gene called <em>IKZF1</em>, which encodes for a protein, Ikaros, that is required for B cell development. The researchers also found that the mutation is much less common in white non-Hispanic/Latino children.</p> <p>Sankaran, postdoctoral fellow and first author Lara Wahlster, and their colleagues provide functional data that suggest the variant slows B cell maturation and, in turn, increases the chances of a cancerous mutation popping up in the cells.&nbsp;</p> <p>Self-identified Hispanic/Latino individuals in the United States are known to have diverse ancestral origins, including Indigenous American ancestry. The researchers found that this risk variant appeared to arise from Indigenous American ancestral origins and is nearly absent in people with predominantly European ancestry. This observation may explain the higher prevalence of ALL in some countries in Latin America, such as Mexico, where there is a greater contribution of Indigenous American ancestry, compared to countries like Argentina, where the contribution of that ancestry is much lower.&nbsp;</p> <p>The researchers then analyzed ancient DNA samples to understand when the risk variant arose in human history. The oldest previously sequenced ancient DNA from an Indigenous American individual, found at the Anzick site in Montana, carried the mutation. This means the risk variant was present among the first people who entered the Americas approximately 13,000 years ago.&nbsp;</p> <p>Further investigation revealed that the variant was promoted by natural selection. Sankaran and colleagues speculated that carrying the mutation may have protected people against infection since IKZF1 plays a role in immune function.</p> <p>"Exploring ancient DNA provides insights into the roots of modern-day health differences, bridging the gap between our past and the pressing health challenges facing our society today," says Sankaran.</p> <p>The study's findings may provide insights into the higher rates of treatment resistance and relapse observed in Hispanic/Latino children with ALL. Sankaran emphasizes the need for further research to gain a comprehensive understanding of the implications of this variant. Ultimately, Sankaran hopes this knowledge may lead to ways of preventing leukemia in children carrying the identified genetic variant.</p> <p>"I hope our work will ultimately pave the path towards preventing this disease," says Sankaran.</p> <p><em>Adapted from <a href="https://www.eurekalert.org/news-releases/1038995" target="_blank">a press release issued by Dana-Farber/Boston Children's Cancer and Blood Disorder Center</a>.</em></p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro paragraph--view-mode--default"> <div class="field field--name-field-paragraph field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Funding</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>This study was funded by the National Cancer Institute, the New York Stem Cell Foundation, the Leukemia &amp; Lymphoma Society, and the Dana-Farber Cancer Institute Presidential Priorities Initiative.</p> </div> </div> </div> <div class="field__item"> <div class="paragraph paragraph--type--table-outro-row paragraph--view-mode--default"> <div class="clearfix text-formatted field field--name-field-heading field--type-text field--label-hidden field__item"><p>Paper cited</p> </div> <div class="clearfix text-formatted field field--name-field-text field--type-text-long field--label-hidden field__item"><p>De Smith AJ, Wahlster L, Jeon S, et al.&nbsp;<a href="https://www.cell.com/cell-genomics/fulltext/S2666-979X(24)00068-5" target="_blank">A noncoding regulatory variant in <em>IKZF1</em> increases acute lymphoblastic leukemia risk in Hispanic/Latino children</a>. <em>Cell Genomics</em>. Online March 26, 2024. DOI:&nbsp;10.1016/j.xgen.2024.100526.</p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="content-section container"> <div class="content-section__main"> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodelong-storyfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/gwas" hreflang="en">GWAS</a></div> </div> </div> </div> </div> </div> Wed, 08 Feb 2023 22:39:07 +0000 tulrich@broadinstitute.org 1281666 at