Reznichenko, Anna and Boeger, Carsten A. and Snieder, Harold and van den Born, Jacob and de Borst, Martin H. and Damman, Jeffrey and van Dijk, Marcory C. R. F. and van Goor, Harry and Hepkema, Bouke G. and Hillebrands, Jan-Luuk and Leuvenink, Henri G. D. and Niesing, Jan and Bakker, Stephan J. L. and Seelen, Marc and Navis, Gerjan (2012) UMOD as a susceptibility gene for end-stage renal disease. BMC MEDICAL GENETICS, 13: 78. ISSN 1471-2350,
Full text not available from this repository. (Request a copy)Abstract
Background: In recent genetic association studies, common variants including rs12917707 in the UMOD locus have shown strong evidence of association with eGFR, prevalent and incident chronic kidney disease and uromodulin urinary concentration in general population cohorts. The association of rs12917707 with end-stage renal disease (ESRD) in a recent case-control study was only nominally significant. Methods: To investigate whether rs12917707 associates with ESRD, graft failure (GF) and urinary uromodulin levels in an independent cohort, we genotyped 1142 ESRD patients receiving a renal transplantation and 1184 kidney donors as controls. After transplantation, 1066 renal transplant recipients were followed up for GF. Urinary uromodulin concentration was measured at median [IQR] 4.2 [2.2-6.1] yrs after kidney transplantation. Results: The rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], p = 0.04) consistent in effect size and direction with the previous report (Boger et al, PLoS Genet 2011). Meta-analysis of these findings showed significant association of rs12917707 with ESRD (OR 0.91 [0.85-98], p = 0.008). In contrast, rs12917707 was not associated with incidence of GF. Urinary uromodulin concentration was lower in recipients-carriers of the donor rs12917707 minor allele as compared to non-carriers, again consistent with previous observations in general population cohorts. Conclusions: Our study thus corroborates earlier evidence and independently confirms the association between UMOD and ESRD.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CHRONIC KIDNEY-DISEASE; GENOME-WIDE ASSOCIATION; INCIDENT CKD; POPULATION; UROMODULIN; DESIGN; COHORT; UMOD; Uromodulin; Polymorphisms; SNP; End-stage renal disease; Kidney transplantation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin II |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 May 2020 06:47 |
| Last Modified: | 06 May 2020 06:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18126 |
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