Metabolic Genetics

Genetic variation affects blood metabolites

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Science  20 Jun 2014:
Vol. 344, Issue 6190, pp. 1355
DOI: 10.1126/science.344.6190.1355-c

Genetic variation influences human metabolism dramatically. Understanding the process could help researchers identify drugs and develop better treatments for complex diseases. In a study of over 7000 adults, Shin et al. reconstructed metabolic pathways by combining genetics with metabolomics, the study of small molecules (aka metabolites) in biological systems. They identified 145 genetic loci, 84 previously unidentified, that they predicted would affect a wide range of biological functions. These 145 genetic loci were connected in a network to 400 biochemically relevant blood metabolites, forming an atlas of metabolites in the blood. Identifying these genetic variants that affect blood metabolites helps us gain a better understanding of human biology and potential treatments for disease.

Nat. Genet. 10.1038/ng.2982 (2014).

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