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

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