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*, Multiple Tissue Human Expression Resource (MuTHER) Consortium

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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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
Pages (from-to)543-550
Number of pages8
JournalNature Genetics
Issue number6
Early online date11 May 2014
Publication statusPublished - Jun 2014


  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Blood
  • Blood Chemical Analysis
  • Cohort Studies
  • Computational Biology
  • Data Mining
  • Europe
  • Female
  • Gene Expression Profiling
  • Genetic Loci
  • Genetic Variation
  • Genome-Wide Association Study
  • Genotype
  • Germany
  • Great Britain
  • Humans
  • Internet
  • Male
  • Metabolism, Inborn Errors
  • Metabolomics
  • Middle Aged
  • Young Adult


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