An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease.

ABSTRACT: 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 contribute to CKD. Here, candidate intermediate-effect UMOD variants were identified using large-population and ADTKD cohorts. Biological and phenotypical effects were investigated using cell models, in silico simulations, patient samples, and international databases and biobanks. Eight UMOD missense variants reported in ADTKD are present in the Geno

SUBMITTER: Olinger E 

PROVIDER: S-EPMC9388113 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature