rs10953730 - SMIM30 - PPP1R3A

Magnitude 2.0 · 1 study on file

Reported associations

• Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum - Unknown journal (n.d.) · Unknown authors · PubMed 19043545

  ABSTRACT: The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or body fluid. It thereby provides a functional readout of the physiological state of the human body. Genetic variants that associate with changes in the homeostasis of key lipids, carbohydrates, or amino acids are not only expected to display much larger effect sizes due to their direct involvement in metabolite conversion modification, but should also provide access to the biochemical context of such variations, in particular when enzyme coding genes are concerned. To test this hypothesis, we conducted what is, to the best of our knowledge, the first GWA study with metabolomics based on the quantitative measurement of 363 metabolites in serum of 284 mal

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