A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease.

BACKGROUND: Several genome-wide association studies revealed that several variants of UMOD gene were related to the estimated glomerular filtration rate (eGFR), CKD or hypertension. In this study, we investigated the association between a common variant rs13333226 in the promoter region of UMOD gene and end stage renal disease (ESRD).

METHODS: Variant rs13333226 of UMOD gene was genotyped by using the ABI Real time TaqMan allelic discrimination assay in a case-control study including 638 unrelated patients with ESRD and 366 controls.

RESULTS: The frequency of UMOD SNP rs13333226 GG/GA genotype was significantly higher (36.83% vs. 20.22%, P = 4.02 × 10(-8)) and the frequency of G allele was much higher (19.04% vs. 11.20%, P = 4.00 × 10(-6)) in the patients with ESRD than in the controls. The G allele was associated with an increased risk of ESRD (odds ratio 2.30, 95% confidence interval 1.70-3.11, P = 6.10 × 10(-8)). And G allele (odds ratio 2.33, 95% confidence interval 1.32-4.13, P = 3.65 × 10(-3)) was associated independently with ESRD.

CONCLUSIONS: A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese.