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Draisma, H.H.* ; Pool, R.* ; Kobl, M. ; Jansen, R.C.* ; Petersen, A.-K. ; Vaarhorst, A.A.* ; Yet, I.* ; Haller, T.* ; Demirkan, A.* ; Esko, T.* ; Zhu, G.* ; Böhringer, S.* ; Beekman, M.* ; van Klinken, J.B.* ; Römisch-Margl, W. ; Prehn, C. ; Adamski, J. ; de Craen, A.J.* ; van Leeuwen, E.M.* ; Amin, N.* ; Dharuri, H.* ; Westra, H.J.* ; Franke, L.* ; de Geus, E.J.* ; Hottenga, J.J.* ; Willemsen, G.* ; Henders, A.K.* ; Montgomery, G.W.* ; Nyholt, D.R.* ; Whitfield, J.B.* ; Penninx, B.W.* ; Spector, T.D.* ; Metspalu, A.* ; Slagboom, P.E.* ; van Dijk, K.W.* ; 't Hoen, P.A.* ; Strauch, K. ; Martin, N.G.* ; van Ommen, G.J.* ; Illig, T. ; Bell, J.T.* ; Mangino, M.* ; Suhre, K. ; McCarthy, M.I.* ; Gieger, C. ; Isaacs, A.* ; van Duijn, C.M.* ; Boomsma, D.I.*

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

Nat. Commun. 6:7208 (2015)
DOI PMC
Creative Commons Lizenzvertrag
Open Access Gold möglich sobald Verlagsversion bei der ZB eingereicht worden ist.
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Coronary-artery-disease; Arginine Bioavailability; Common Variants; Loci; Serum; Metaanalysis; Population; Software; Traits; Risk
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 6, Heft: , Seiten: , Artikelnummer: 7208 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Bioinformatics and Systems Biology (IBIS)
Institute of Epidemiology II (EPI2)
Molekulare Endokrinologie und Metabolismus (MEM)
Institute of Experimental Genetics (IEG)