Molecular Genetics and Metabolism Reports (Sep 2018)

The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites

  • Jessica O'Reilly,
  • Faith Pangilinan,
  • Karsten Hokamp,
  • Per M. Ueland,
  • John T. Brosnan,
  • Margaret E. Brosnan,
  • Lawrence C. Brody,
  • Anne M. Molloy

Journal volume & issue
Vol. 16
pp. 20 – 22

Abstract

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The glycine cleavage system (GCS) is a complex of four enzymes enabling glycine to serve as a source of one-carbon units to the cell. We asked whether concentrations of glycine, dimethylglycine, formate, and serine in blood are influenced by variation within GCS genes in a sample of young, healthy individuals. Fifty-two variants tagging (r2 < 0.9) the four GCS genes were tested; one variant, GLDC rs2297442-G, was significantly associated (p = .0007) with decreased glycine concentrations in serum. Keywords: Glycine cleavage system (GCS), One-carbon metabolism, Glycine, Folate, Neural tube defects