Abstract
BackgroundGenetic factors are suspected in the pathogenesis of IgA nephropathy, as well as in the course of IgA nephropathy progression towards end stage renal failure. UMOD polymorphism rs12917707 is known to associate with end stage renal failure of mixed aetiologies.MethodsWe tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure.ResultsNo association was observed between either groups, and a non-significant trend was observed for more severe IgA nephropathy with the allele reported to protect against end stage renal failure of mixed aetiologies.ConclusionWe conclude that UMOD is unlikely to play a role in IgA nephropathy pathogenesis nor progression to end stage renal failure, and suggest that UMOD effects are restricted to some causes of renal disease, e.g. diabetes or hypertension.
Highlights
Genetic factors are suspected in the pathogenesis of IgA nephropathy, as well as in the course of IgA nephropathy progression towards end stage renal failure
Genetic factors are suspected in the pathogenesis of IgA nephropathy: (i) the prevalence of IgA nephropathy
Single Nucleotide Polymorphisms (SNPs) in the UMOD gene were significantly associated with Chronic Kidney Disease (CKD) and increased serum creatinine
Summary
Genetic factors are suspected in the pathogenesis of IgA nephropathy, as well as in the course of IgA nephropathy progression towards end stage renal failure. UMOD polymorphism rs12917707 is known to associate with end stage renal failure of mixed aetiologies. Thirty percent of IgAN patients will develop End Stage Renal Failure (ESRF) within 20 years after diagnosis requiring dialysis or kidney transplantation. The UMOD gene is transcribed exclusively in renal tubular cells of the thick ascending limb of the loop of Henle. These findings suggest a common mechanism for CKD pathogenesis localized at the nephron’s loop of Henle with an important role of uromodulin
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