May 13, 2014

An atlas of genetic influences on human blood metabolites

Nature Genetics
So-Youn ShinNicole Soranzo

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.

Mentioned in this Paper

Metabolic Process, Cellular
Genome-Wide Association Study
Drug Development
Inborn Errors of Metabolism
Twitter Messaging
Incidence Studies
Gene Expression
Teens
Metabolic Pathway
Blood

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