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: 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 (Böger 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.
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Authors | Anna Reznichenko, Carsten A Böger, Harold Snieder, Jacob van den Born, Martin H de Borst, Jeffrey Damman, Marcory C R F van Dijk, Harry van Goor, Bouke G Hepkema, Jan-Luuk Hillebrands, Henri G D Leuvenink, Jan Niesing, Stephan J L Bakker, Marc Seelen, Gerjan Navis, REGaTTA (REnal GeneTics TrAnsplantation) Groningen group |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 13
Pg. 78
(Sep 05 2012)
ISSN: 1471-2350 [Electronic] England |
PMID | 22947327
(Publication Type: Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Alleles
- Case-Control Studies
- Cohort Studies
- Disease Susceptibility
- Female
- Genotype
- Humans
- Kidney Failure, Chronic
(genetics)
- Male
- Middle Aged
- Odds Ratio
- Polymorphism, Single Nucleotide
- Risk Factors
- Tissue Donors
- Uromodulin
(genetics, urine)
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