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Updated: Apr 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort
Miriana Dinic, Lidia Ghisdal, Judith Racapé
1Nephrology-Renal Transplantation Department, CHU de Saint Etienne & EA3064, GIMAP, Université Jean Monnet, Saint Etienne 42055 Cedex 02, France. eric.alamartine@chu-st-etienne.fr.
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.
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