Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

Nat Commun
Authors
Keywords
Abstract

Metabolites are small molecules involved in cellular metabolism, which can be detected in biological samples using metabolomic techniques. Here we present the results of genome-wide association and meta-analyses for variation in the blood serum levels of 129 metabolites as measured by the Biocrates metabolomic platform. In a discovery sample of 7,478 individuals of European descent, we find 4,068 genome- and metabolome-wide significant (Z-test, P 1.09 × 10(-9)) associations between single-nucleotide polymorphisms (SNPs) and metabolites, involving 59 independent SNPs and 85 metabolites. Five of the fifty-nine independent SNPs are new for serum metabolite levels, and were followed-up for replication in an independent sample (N = 1,182). The novel SNPs are located in or near genes encoding metabolite transporter proteins or enzymes (SLC22A16, ARG1, AGPS and ACSL1) that have demonstrated biomedical or pharmaceutical importance. The further characterization of genetic influences on metabolic phenotypes is important for progress in biological and medical research.

Year of Publication
2015
Journal
Nat Commun
Volume
6
Pages
7208
Date Published
2015 Jun 12
ISSN
2041-1723
URL
DOI
10.1038/ncomms8208
PubMed ID
26068415
PubMed Central ID
PMC4745136
Links
Grant list
230374 / European Research Council / International
R01 DK075787 / DK / NIDDK NIH HHS / United States
R01DK075787 / DK / NIDDK NIH HHS / United States