title: R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
abstract: OBJECTIVE
  Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors, underlying the role of the complement pathway in AMD. Our purpose was to analyze the role of the R102G polymorphism of the complement component (C3) gene in a French population, in a case-control study.
  
  
  METHODS
  A total of 1,080 patients with exudative AMD and 406 controls were recruited and genotyped for Y402H of complement factor H (CFH), rs10490924 of age-related maculopathy susceptibility 2 (ARMS2), and R102G of the C3 gene.
  
  
  RESULTS
  The distribution of the R102G genotypes was significantly different in the AMD patients compared to controls (p=0.02). The Odds Ratio compared to C/C individuals was 1.4 (95% CI 1.1-1.8) for C/G individuals and 1.4 (95% CI 0.8-2.4) for G/G individuals. In a dominant model, the adjusted Odds Ratio for carriers of the G allele is 1.4 (95% CI 1.0-1.9; p=0.03).
  
  
  CONCLUSIONS
  Our study shows C3 to be a moderate susceptibility gene for exudative AMD in the French population.
authors.affiliation: Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris 12, Creteil, France.
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.forename: Florence
authors.initials: F
authors.lastname: Richard
authors.forename: Nathalie
authors.initials: N
authors.lastname: Puche
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leveziel
authors.forename: Salomon Y
authors.initials: SY
authors.lastname: Cohen
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Korobelnik
authors.forename: José
authors.initials: J
authors.lastname: Sahel
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D016022:Case-Control Studies; D003176:Complement C3 / Q000235:genetics*; D005260:Female; D005602:France; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics
chemical_list: C514392:ARMS2 protein, human; D003176:Complement C3; D011506:Proteins