UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort

BMC Nephrol. 2014 Aug 28:15:138. doi: 10.1186/1471-2369-15-138.

Abstract

Background: 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.

Methods: We 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.

Results: No 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.

Conclusion: We 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.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Cohort Studies
  • Female
  • Follow-Up Studies
  • Genetic Association Studies / methods*
  • Glomerulonephritis, IGA / diagnosis
  • Glomerulonephritis, IGA / epidemiology
  • Glomerulonephritis, IGA / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Severity of Illness Index*
  • Uromodulin / genetics*
  • White People / genetics*

Substances

  • UMOD protein, human
  • Uromodulin