title: Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.
abstract: OBJECTIVE
  Complement factor H (CFH) Y402H polymorphism shows a strong association with age-related macular degeneration (AMD). Although the phenotypic concordance of AMD has been shown in sibling/twin studies, little is known about the genotype-phenotype association. In this study, we investigated whether CFH Y402H is associated with early phenotypic features.
  
  
  METHODS
  Statistical analysis was performed on 420 patients with AMD with complete clinical and genetic data (graded colour fundus photographs, according to the International Classification and Grading System for AMD and successful testing for CFH Y402H).
  
  
  RESULTS
  In this Swiss population, an OR of 2.95 was confirmed for AMD in the presence of at least one risk C allele and OR of 9.05 for the CC homozygotes, corrected for age and sex. No difference was found between the AMD stages. Patients homozygous for the risk allele showed significant association with peripheral drusen (p = 0.028) and for central drusen location (p = 0.049). No trend was found for other drusen criteria (size, total surface, location nasal to disc) and for pigmentary changes.
  
  
  CONCLUSIONS
  The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features. Additional genetic factors are likely to influence drusen phenotype.
authors.affiliation: University Eye Hospital Jules Gonin, 15, Av. de France - Case postale 133, CH - 1000 Lausanne 7, Switzerland.
authors.forename: I
authors.initials: I
authors.lastname: Droz
authors.forename: I
authors.initials: I
authors.lastname: Mantel
authors.forename: A
authors.initials: A
authors.lastname: Ambresin
authors.forename: M
authors.initials: M
authors.lastname: Faouzi
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000368:Aged; D020256:Choroidal Neovascularization / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D015593:Retinal Drusen / Q000209:etiology / Q000235:genetics
chemical_list: D017242:Complement Factor H