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Nature Research, Nature Genetics, 6(46), p. 543-550, 2014

DOI: 10.1038/ng.2982

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An atlas of genetic influences on human blood metabolites.

Journal article published in 2014 by So-Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta ORCID, Tsun-Po Yang, Klaudia Walter ORCID, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.