title: A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease.
abstract: 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.
authors.affiliation: Renal Division and Institute of Nephrology, Sichuan Provincial People's Hospital, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China.
authors.forename: Tingyu
authors.initials: T
authors.lastname: Chen
authors.affiliation: Renal Division and Institute of Nephrology, Sichuan Provincial People's Hospital, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China.
authors.forename: Qianliao
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Renal Division and Institute of Nephrology, Sichuan Provincial People's Hospital, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China. guisenli@163.com.|School of Medicine, University of Electronic Science and Technology of China, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China. guisenli@163.com.
authors.forename: Guisen
authors.initials: G
authors.lastname: Li
authors.affiliation: Renal Division and Institute of Nephrology, Sichuan Provincial People's Hospital, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China.|School of Medicine, University of Electronic Science and Technology of China, No. 32, West 2nd Duan, 1st Circle Rd., Qingyang District, Chengdu, Sichuan, 610072, People's Republic of China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D058949:Uromodulin / Q000235:genetics*; D055815:Young Adult
chemical_list: C548612:UMOD protein, human; D058949:Uromodulin
keywords: End stage renal disease; Single-nucleotide polymorphism; UMOD