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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)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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
Schlagwörter Coronary-artery-disease; Arginine Bioavailability; Common Variants; Loci; Serum; Metaanalysis; Population; Software; Traits; Risk
Sprache englisch
Veröffentlichungsjahr 2015
HGF-Berichtsjahr 2015
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
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Bioinformatics and Systems Biology (IBIS)
Institute of Epidemiology (EPI)
Molekulare Endokrinologie und Metabolismus (MEM)
Institute of Experimental Genetics (IEG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30505 - New Technologies for Biomedical Discoveries
30202 - Environmental Health
30201 - Metabolic Health
90000 - German Center for Diabetes Research
Forschungsfeld(er) Genetics and Epidemiology
Enabling and Novel Technologies
PSP-Element(e) G-504100-001
G-503700-001
G-504091-004
G-505600-003
G-501900-061
G-501900-402
PubMed ID 26068415
DOI 10.1038/ncomms8208
WOS ID WOS:000357167100002
Scopus ID 84935910747
Erfassungsdatum 2015-06-14
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