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Article

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

Nature communications - 11 Feb 2021

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

Abstract excerpt

Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios among 4864 GCKD study participants. Here we report the detection of 128 significant associations involving 30 unique genes, 16 of which are known to underlie...

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Identifiers

PMID: 33574263
DOI: 10.1038/s41467-020-20877-8
PMCID: PMC7878905

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