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An atlas of genetic influences on human blood metabolites.

Publication ,  Journal Article
Shin, S-Y; Fauman, EB; Petersen, A-K; Krumsiek, J; Santos, R; Huang, J; Arnold, M; Erte, I; Forgetta, V; Yang, T-P; Walter, K; Menni, C ...
Published in: Nat Genet
June 2014

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.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

June 2014

Volume

46

Issue

6

Start / End Page

543 / 550

Location

United States

Related Subject Headings

  • Young Adult
  • United Kingdom
  • Middle Aged
  • Metabolomics
  • Metabolism, Inborn Errors
  • Male
  • Internet
  • Humans
  • Germany
  • Genotype
 

Citation

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Shin, S.-Y., Fauman, E. B., Petersen, A.-K., Krumsiek, J., Santos, R., Huang, J., … Soranzo, N. (2014). An atlas of genetic influences on human blood metabolites. Nat Genet, 46(6), 543–550. https://doi.org/10.1038/ng.2982
Shin, So-Youn, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, et al. “An atlas of genetic influences on human blood metabolites.Nat Genet 46, no. 6 (June 2014): 543–50. https://doi.org/10.1038/ng.2982.
Shin S-Y, Fauman EB, Petersen A-K, Krumsiek J, Santos R, Huang J, et al. An atlas of genetic influences on human blood metabolites. Nat Genet. 2014 Jun;46(6):543–50.
Shin, So-Youn, et al. “An atlas of genetic influences on human blood metabolites.Nat Genet, vol. 46, no. 6, June 2014, pp. 543–50. Pubmed, doi:10.1038/ng.2982.
Shin S-Y, Fauman EB, Petersen A-K, Krumsiek J, Santos R, Huang J, Arnold M, Erte I, Forgetta V, Yang T-P, Walter K, Menni C, Chen L, Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L, Grundberg E, Multiple Tissue Human Expression Resource (MuTHER) Consortium, Waldenberger M, Richards JB, Mohney RP, Milburn MV, John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ, Gieger C, Kastenmüller G, Spector TD, Soranzo N. An atlas of genetic influences on human blood metabolites. Nat Genet. 2014 Jun;46(6):543–550.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

June 2014

Volume

46

Issue

6

Start / End Page

543 / 550

Location

United States

Related Subject Headings

  • Young Adult
  • United Kingdom
  • Middle Aged
  • Metabolomics
  • Metabolism, Inborn Errors
  • Male
  • Internet
  • Humans
  • Germany
  • Genotype