Nature Communications (Feb 2021)

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

  • Yurong Cheng,
  • Pascal Schlosser,
  • Johannes Hertel,
  • Peggy Sekula,
  • Peter J. Oefner,
  • Ute Spiekerkoetter,
  • Johanna Mielke,
  • Daniel F. Freitag,
  • Miriam Schmidts,
  • GCKD Investigators,
  • Florian Kronenberg,
  • Kai-Uwe Eckardt,
  • Ines Thiele,
  • Yong Li,
  • Anna Köttgen

DOI
https://doi.org/10.1038/s41467-020-20877-8
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 15

Abstract

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Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on metabolic consequences underlying metabolic disease.