An atlas of genetic influences on human blood metabolites

So-Youn Shin, 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, Ana M Valdes, Craig L Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li XiElin 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 Kastenmüller, Tim D Spector, Nicole Soranzo, The Multiple Tissue Human Expression Resource (MuTHER) Consortium

Research output: Contribution to journalArticle (Academic Journal)

465 Citations (Scopus)

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.

Original languageEnglish
JournalNature Genetics
DOIs
Publication statusPublished - 11 May 2014

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  • Projects

    MRC UoB UNITE Unit - Programme 1

    Davey Smith, G.

    1/06/1331/03/18

    Project: Research

    Cite this

    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., ... The Multiple Tissue Human Expression Resource (MuTHER) Consortium (2014). An atlas of genetic influences on human blood metabolites. Nature Genetics. https://doi.org/10.1038/ng.2982