An atlas of genetic influences on human blood metabolites

Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J, Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L, Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L, Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV, John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ, Gieger C, Kastenmueller G, Spector TD, Soranzo N (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Nature Genetics Nature Publishing Group

Book Volume: 46

Pages Range: 543-550

Journal Issue: 6

DOI: 10.1038/ng.2982

Abstract

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. © 2014 Nature America, Inc.

Involved external institutions

Wellcome Trust Sanger Institute - Genome Research Limited GB United Kingdom (GB) Pfizer, Inc. US United States (USA) (US) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich DE Germany (DE) The European Bioinformatics Institute (EBI) GB United Kingdom (GB) King’s College London GB United Kingdom (GB) McGill University CA Canada (CA) Metabolon, Inc. US United States (USA) (US)

How to cite

APA:

Shin, S.-Y., Fauman, E.B., Petersen, A.-K., Krumsiek, J., Santos, R., Huang, J.,... Soranzo, N. (2014). An atlas of genetic influences on human blood metabolites. Nature Genetics, 46(6), 543-550. https://doi.org/10.1038/ng.2982

MLA:

Shin, So-Youn, et al. "An atlas of genetic influences on human blood metabolites." Nature Genetics 46.6 (2014): 543-550.

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