Plate IV.538 · Publications
An atlas of genetic influences on human blood metabolites
Article in Nature Genetics, 11 May 2014.
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.
Cite
@article{consortium2014atlas,
title = {{An atlas of genetic influences on human blood metabolites}},
author = {The Multiple Tissue Human Expression Resource (MuTHER) Consortium and Shin, So-Youn and Fauman, Eric B and Petersen, Ann-Kristin and Krumsiek, Jan and Santos, Rita and Huang, Jie and Arnold, Matthias and Erte, Idil and Forgetta, Vincenzo and Yang, Tsun-Po and Walter, Klaudia and Menni, Cristina and Chen, Lu and Vasquez, Louella and Valdes, Ana M and Hyde, Craig L and Wang, Vicky and Ziemek, Daniel and Roberts, Phoebe and Xi, Li and Grundberg, Elin and Waldenberger, Melanie and Richards, J Brent and Mohney, Robert P and Milburn, Michael V and John, Sally L and Trimmer, Jeff and Theis, Fabian J and Overington, John P and Suhre, Karsten and Brosnan, M Julia and Gieger, Christian and Kastenmüller, Gabi and Spector, Tim D and Soranzo, Nicole},
journal = {Nature Genetics},
publisher = {Springer Science and Business Media LLC},
year = {2014},
month = may,
doi = {10.1038/ng.2982},
url = {https://doi.org/10.1038/ng.2982},
pmid = {24816252},
pmcid = {PMC4064254}
}