title: UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort.
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.
  
  
  CONCLUSIONS
  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.
authors.forename: Miriana
authors.initials: M
authors.lastname: Dinic
authors.forename: Lidia
authors.initials: L
authors.lastname: Ghisdal
authors.forename: Judith
authors.initials: J
authors.lastname: Racapé
authors.forename: Lise
authors.initials: L
authors.lastname: Thibaudin
authors.forename: Philippe
authors.initials: P
authors.lastname: Gatault
authors.forename: Marie
authors.initials: M
authors.lastname: Essig
authors.forename: Yann
authors.initials: Y
authors.lastname: Le Meur
authors.forename: Christian
authors.initials: C
authors.lastname: Noël
authors.forename: Guy
authors.initials: G
authors.lastname: Touchard
authors.forename: Pierre
authors.initials: P
authors.lastname: Merville
authors.forename: Zineb
authors.initials: Z
authors.lastname: Ajarchouh
authors.forename: Christophe
authors.initials: C
authors.lastname: Mariat
authors.forename: Marc
authors.initials: M
authors.lastname: Abramowicz
authors.forename: Daniel
authors.initials: D
authors.lastname: Abramowicz
authors.affiliation: Nephrology-Renal Transplantation Department, CHU de Saint Etienne & EA3064, GIMAP, Université Jean Monnet, Saint Etienne 42055 Cedex 02, France. eric.alamartine@chu-st-etienne.fr.
authors.forename: Eric
authors.initials: E
authors.lastname: Alamartine
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies / Q000379:methods*; D005922:Glomerulonephritis, IGA / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012720:Severity of Illness Index; D058949:Uromodulin / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: C548612:UMOD protein, human; D058949:Uromodulin