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Shin, S.Y.* ; Fauman, E.B.* ; Petersen, A.-K. ; Krumsiek, J. ; Santos, R.* ; Huang, J.* ; Arnold, M. ; Erte, I.* ; Forgetta, V.* ; Yang, T.P.* ; Walter, K.* ; Menni, C.* ; Chen, L.* ; Vasquez, L.* ; Valdes, A.M.* ; Hyde, C.L.* ; Wang, V.* ; Ziemek, D.* ; Roberts, P.* ; Xi, L.* ; Grundberg, E.* ; Waldenberger, M. ; Richards, J.B.* ; Mohney, R.P.* ; Milburn, M.V.* ; John, S.L.* ; Trimmer, J.* ; Theis, F.J. ; Overington, J.P.* ; Suhre, K. ; Brosnan, M.J.* ; Gieger, C. ; Kastenmüller, G. ; Spector, T.D.* ; Soranzo, N.*

An atlas of genetic influences on human blood metabolites.

Nat. Genet. 46, 543-550 (2014)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Genome-wide association scans with high-throughput metabolic profiling provide unprecedented insights into how genetic variation influences metabolism and complex disease. Here we report the most comprehensive exploration of genetic loci influencing human metabolism thus far, comprising 7,824 adult individuals from 2 European population studies. We report genome-wide significant associations at 145 metabolic loci and their biochemical connectivity with more than 400 metabolites in human blood. We extensively characterize the resulting in vivo blueprint of metabolism in human blood by integrating it with information on gene expression, heritability and overlap with known loci for complex disorders, inborn errors of metabolism and pharmacological targets. We further developed a database and web-based resources for data mining and results visualization. Our findings provide new insights into the role of inherited variation in blood metabolic diversity and identify potential new opportunities for drug development and for understanding disease.
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Icb_InKoMBio_CellComm Icb_metabo Icb_MIMOmics Icb_ML
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association; Profiles; Variants
Language english
Publication Year 2014
HGF-reported in Year 2014
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 46, Issue: 6, Pages: 543-550 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Computational Biology (ICB)
Institute of Bioinformatics and Systems Biology (IBIS)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
POF-Topic(s) 30205 - Bioengineering and Digital Health
30505 - New Technologies for Biomedical Discoveries
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Enabling and Novel Technologies
Genetics and Epidemiology
PSP Element(s) G-503800-001
G-503700-001
G-504100-001
G-504091-001
G-504090-001
PubMed ID 24816252
DOI 10.1038/ng.2982
WOS ID WOS:000336870700009
Scopus ID 84901686870
Erfassungsdatum 2014-05-14
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