Uromodulin and CKD: insight into variant pathogenicity

Affiliations

¹ Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, USA. Electronic address: noraf@unc.edu.
² Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA. Electronic address: jonathan_berg@med.unc.edu.

Comment

Nora Franceschini et al. Kidney Int. 2023 Feb.

. 2023 Feb;103(2):248-250.

doi: 10.1016/j.kint.2022.11.018.

¹ Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, USA. Electronic address: noraf@unc.edu.
² Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA. Electronic address: jonathan_berg@med.unc.edu.

No abstract available

Keywords: chronic kidney disease; uromodulin; variant pathogenicity.

Comment on

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.