Article
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proceedings of the National Academy of Sciences of the United States of America - 16 Aug 2022
Olinger Eric, Schaeffer Céline, Kidd Kendrah, Elhassan Elhussein A E, Cheng Yurong, Dufour Inès, Schiano Guglielmo, Mabillard Holly, Pasqualetto Elena, Hofmann Patrick, Fuster Daniel G, Kistler Andreas D, Wilson Ian J, Kmoch Stanislav, Raymond Laure, Robert Thomas, Eckardt Kai-Uwe, Bleyer Anthony J, Köttgen Anna, Conlon Peter J, Wiesener Michael, Sayer John A, Rampoldi Luca, Devuyst Olivier
Abstract excerpt
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD), while common low-impact variants strongly associate with kidney function and the risk of chronic kidney disease (CKD) in the general population. It is unknown whether intermediate-effect variants in UMOD...
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