DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Amino acid levels. The EFO term blood metabolite measurement, amino acid measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: blood metabolite measurement, amino acid measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

HH Draisma, R Pool, M Kobl, R Jansen, AK Petersen, AA Vaarhorst, I Yet, T Haller, A Demirkan, T Esko, G Zhu, S Böhringer, M Beekman, JB van Klinken, W Römisch-Margl, C Prehn, J Adamski, AJ de Craen, EM van Leeuwen, N Amin, H Dharuri, HJ Westra, L Franke, EJ de Geus, JJ Hottenga, G Willemsen, AK Henders, GW Montgomery, DR Nyholt, JB Whitfield, BW Penninx, TD Spector, A Metspalu, P Eline Slagboom, KW van Dijk, PA 't Hoen, K Strauch, NG Martin, GJ van Ommen, T Illig, JT Bell, M Mangino, K Suhre, MI McCarthy, C Gieger, A Isaacs, CM van Duijn, DI Boomsma

TITLE:

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

JOURNAL:

Nature communications Jun 2015, Vol 6, pp. 7208

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. PUBMED: 26068415
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