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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Harmen H. M. Draisma, René Pool, Michael Kobl, Rick Jansen, Ann-Kristin Petersen, Anika A. M. Vaarhorst, Idil Yet, Toomas Haller, Ayşe Demirkan, Tõnu Esko, Gu Zhu, Stefan Böhringer, Marian Beekman, Jan Bert van Klinken, Werner Römisch-Margl, Cornelia Prehn, Jerzy Adamski, Anton J. M. de Craen, Elisabeth M. van Leeuwen, Najaf Amin, Harish Dharuri, Harm-Jan Westra, Lude Franke, Eco J. C. de Geus, Jouke Jan Hottenga, Gonneke Willemsen, Anjali K. Henders, Grant W. Montgomery, Dale R. Nyholt, John B. Whitfield, Brenda W. Penninx, Tim D. Spector, Andres Metspalu, P. Eline Slagboom, Ko Willems van Dijk, Peter A. C. ‘t Hoen, Konstantin Strauch, Nicholas G. Martin, Gert-Jan B. van Ommen, Thomas Illig, Jordana T. Bell, Massimo Mangino, Karsten Suhre, Mark I. McCarthy, Christian Gieger, Aaron Isaacs, Cornelia M. van Duijn, Dorret I. Boomsma

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. More... »

PAGES

7208

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms8208

    DOI

    http://dx.doi.org/10.1038/ncomms8208

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003527515

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26068415


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