An atlas of genetic influences on human blood metabolites

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.

Citation

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. https://doi.org/10.1038/ng.2982

• 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
• DOI: https://doi.org/10.1038/ng.2982
• Public URL: https://nottingham-repository.worktribe.com/output/1285834
• Publisher URL: https://www.nature.com/articles/ng.2982