Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, Spiekerkoetter U, Mielke J, Freitag DF, Schmidts M; GCKD Investigators, Kronenberg F, Eckardt KU, Thiele I, Li Y, Köttgen A.
We investigated the contribution of rare, exonic genetic variants on urine levels of 1,487 metabolites and 53,714 metabolite ratios among 4,864 individuals. Numerous risk variants and genes for inborn errors of metabolism were detected, characterized, and validated through in silico modeling.
