Uromodulin rs4293393 T>C variation is associated with kidney disease in patients with type 2 diabetes.

ABSTRACT:

Background & objectives

Uromodulin, a UMOD gene encoded glycoprotein is synthesized exclusively in renal tubular cells and released into urine. Mutations lead to uromodulin misfolding and retention in the kidney, where it might stimulate cells of immune system to cause inflammation and progression of kidney disease. Genome-wide association studies (GWAS) have identified UMOD locus to be associated with hypertension and diabetic nephropathy (DN). In this study, we investigated the association between rs4293393 variation in UMOD gene and susceptibility to kidney disease in individuals with type 2 diabetes mellitus (T2DM).

Methods

A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD

SUBMITTER: Kumar V 

PROVIDER: S-EPMC5890591 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature