title: Complement factor H variant increases the risk for early age-related macular degeneration.
abstract: OBJECTIVE
  To investigate whether a polymorphism in the complement factor H gene determines the risk for the development of early age-related macular degeneration (AMD).
  
  
  METHODS
  In this retrospective case-control study, we enrolled 133 unrelated Taiwan Chinese patients with early AMD and 180 age- and sex-matched control subjects. Early AMD was defined as the presence of extensive intermediate drusen or any large, soft drusen (> or = 125 microm), possibly accompanied by drusenoid retinal pigment epithelial detachment, and the absence of signs of late AMD. Genomic DNA was extracted from peripheral blood obtained from all the AMD patients and control subjects. Polymerase chain reaction was performed to analyze the complement factor H polymorphism (Y402H, rs1061170).
  
  
  RESULTS
  The genotype distribution differed significantly between the early AMD patients (TT 80%; TC 14%; and CC 6%) and controls (TT 91%; TC 9%; CC 0%; P = 9 x 10(-4)). The C allele frequency was significantly higher in the early AMD patients than in the controls (13% vs. 4%, P = 1 x 10(-4), odds ratios = 3.26, 95% confidence intervals = 1.76-6.02).
  
  
  CONCLUSIONS
  Our study demonstrated that the presence of the Y402H polymorphism in complement factor H is significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations and that the C allele frequency is low in these populations.
authors.affiliation: Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Jane-Ming
authors.initials: JM
authors.lastname: Lin
authors.forename: Yi-Yu
authors.initials: YY
authors.lastname: Tsai
authors.forename: Lei
authors.initials: L
authors.lastname: Wan
authors.forename: Hui-Ju
authors.initials: HJ
authors.lastname: Lin
authors.forename: Yushin
authors.initials: Y
authors.lastname: Tsai
authors.forename: Cheng-Chun
authors.initials: CC
authors.lastname: Lee
authors.forename: Chang-Hai
authors.initials: CH
authors.lastname: Tsai
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Sung-Huei
authors.initials: SH
authors.lastname: Tseng
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H