title: Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.
abstract: OBJECTIVE
  To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population.
  
  
  METHODS
  104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay.
  
  
  RESULTS
  The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; p<0.001). The odds ratio (OR; logistic regression analysis) for AMD was 3.9 (95% confidence interval (CI): 1.9 to 8.2) for CC homozygotes. The CC genotype conferred a higher risk for sporadic (OR 4.6; CI: 2.0 to 10.5) than for familial AMD (OR 2.9; CI: 1.0 to 8.4). Genotypes were not related to either age at AMD diagnosis or to AMD phenotype. However, geographic atrophy and choroidal neovascularisation were more frequent in sporadic than in familial AMD (p = 0.027). Overall, the percentage of population attributable risk for the CC genotype was 28% (95% CI:18% to 33%).
  
  
  CONCLUSIONS
  The association between the p.402Y>H (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.
authors.affiliation: Dipartimento di Oftalmologia, Second University of Naples, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Simonelli
authors.forename: G
authors.initials: G
authors.lastname: Frisso
authors.forename: F
authors.initials: F
authors.lastname: Testa
authors.forename: R
authors.initials: R
authors.lastname: di Fiore
authors.forename: D F
authors.initials: DF
authors.lastname: Vitale
authors.forename: M P
authors.initials: MP
authors.lastname: Manitto
authors.forename: R
authors.initials: R
authors.lastname: Brancato
authors.forename: E
authors.initials: E
authors.lastname: Rinaldi
authors.forename: L
authors.initials: L
authors.lastname: Sacchetti
mesh_terms: D000368:Aged; D000483:Alleles; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H