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An atlas of genetic influences on human blood metabolites

Shin, So-Youn; The Multiple Tissue Human Expression Resource (MuTHER) Consortium; Fauman, Eric B; Petersen, Ann-Kristin; Krumsiek, Jan; Santos, Rita; Huang, Jie; Arnold, Matthias; Erte, Idil; Forgetta, Vincenzo; Yang, Tsun-Po; Walter, Klaudia; Menni, Cristina; Chen, Lu; Vasquez, Louella; Valdes, Ana M; Hyde, Craig L; Wang, Vicky; Ziemek, Daniel; Roberts, Phoebe; Xi, Li; Grundberg, Elin; Waldenberger, Melanie; Richards, J Brent; Mohney, Robert P; Milburn, Michael V; John, Sally L; Trimmer, Jeff; Theis, Fabian J; Overington, John P; Suhre, Karsten; Brosnan, M Julia; Gieger, Christian; Kastenm�ller, Gabi; Spector, Tim D; Soranzo, Nicole


So-Youn Shin

The Multiple Tissue Human Expression Resource (MuTHER) Consortium

Eric B Fauman

Ann-Kristin Petersen

Jan Krumsiek

Rita Santos

Jie Huang

Matthias Arnold

Idil Erte

Vincenzo Forgetta

Tsun-Po Yang

Klaudia Walter

Cristina Menni

Lu Chen

Louella Vasquez

Craig L Hyde

Vicky Wang

Daniel Ziemek

Phoebe Roberts

Li Xi

Elin Grundberg

Melanie Waldenberger

J Brent Richards

Robert P Mohney

Michael V Milburn

Sally L John

Jeff Trimmer

Fabian J Theis

John P Overington

Karsten Suhre

M Julia Brosnan

Christian Gieger

Gabi Kastenm�ller

Tim D Spector

Nicole Soranzo


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.


Shin, S., The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Fauman, E. B., Petersen, A., Krumsiek, J., Santos, R., …Soranzo, N. (2014). An atlas of genetic influences on human blood metabolites. Nature Genetics, 46(6), 543-550.

Journal Article Type Article
Acceptance Date Apr 14, 2014
Online Publication Date May 11, 2014
Publication Date May 11, 2014
Deposit Date Nov 19, 2018
Journal Nature Genetics
Print ISSN 1061-4036
Electronic ISSN 1546-1718
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 46
Issue 6
Pages 543-550
Public URL
Publisher URL