Rare Coding Variation and Risk of Intracerebral Hemorrhage.
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| Abstract | BACKGROUND AND PURPOSE: Intracerebral hemorrhage has a substantial genetic component. We performed a preliminary search for rare coding variants associated with intracerebral hemorrhage. METHODS: A total of 757 cases and 795 controls were genotyped using the Illumina HumanExome Beadchip (Illumina, Inc, San Diego, CA). Meta-analyses of single-variant and gene-based association were computed. RESULTS: No rare coding variants were associated with intracerebral hemorrhage. Three common variants on chromosome 19q13 at an established susceptibility locus, encompassing TOMM40, APOE, and APOC1, met genome-wide significance (P5e-08). After adjusting for the APOE epsilon alleles, this locus was no longer convincingly associated with intracerebral hemorrhage. No gene reached genome-wide significance level in gene-based association testing. CONCLUSIONS: Although no coding variants of large effect were detected, this study further underscores a major challenge for the study of genetic susceptibility loci; large sample sizes are required for sufficient power except for loci with large effects. |
| Year of Publication | 2015
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| Journal | Stroke
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| Volume | 46
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| Issue | 8
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| Pages | 2299-301
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| Date Published | 2015 Aug
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| ISSN | 1524-4628
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| URL | |
| DOI | 10.1161/STROKEAHA.115.009838
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| PubMed ID | 26111891
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| PubMed Central ID | PMC4519408
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| Grant list | K23 NS059774 / NS / NINDS NIH HHS / United States
5K23NS059774 / NS / NINDS NIH HHS / United States
K23 NS086873 / NS / NINDS NIH HHS / United States
U10 NS077311 / NS / NINDS NIH HHS / United States
K23 NS042695 / NS / NINDS NIH HHS / United States
P50 AG005134 / AG / NIA NIH HHS / United States
R01 NS059727 / NS / NINDS NIH HHS / United States
R01NS059727 / NS / NINDS NIH HHS / United States
R01 NS073344 / NS / NINDS NIH HHS / United States
R01 NS036695 / NS / NINDS NIH HHS / United States
R01NS073344 / NS / NINDS NIH HHS / United States
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