| Summary: | <p>Abstract</p> <p>Background</p> <p>In recent genetic association studies, common variants including rs12917707 in the <it>UMOD</it> 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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>The rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], <it>p</it> = 0.04) consistent in effect size and direction with the previous report (Böger <it>et al</it>, PLoS Genet 2011). Meta-analysis of these findings showed significant association of rs12917707 with ESRD (OR 0.91 [0.85-98], <it>p</it> = 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.</p> <p>Conclusions</p> <p>Our study thus corroborates earlier evidence and independently confirms the association between <it>UMOD</it> and ESRD.</p>
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