title: [Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration].
abstract: OBJECTIVE
  To investigate the association of three single nucleotide polymorphism (SNP) in the upstream of the complement factor I (CFI) gene with age-related macular degeneration (AMD) in a Chinese population.
  
  
  METHODS
  Case-control study. Patients with early or late stages of AMD and healthy control subjects were recruited. Genomic DNA was extracted from the peripheral venous blood. Genotyping for SNP rs10033900: T > C, rs13117504: C > G and rs2285714: C > T in the upstream of the CFI gene was determined by using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Statistical analysis was performed using the R statistical analysis package.
  
  
  RESULTS
  A total of three hundreds and seventy nine participants were enrolled in the study, including 119 patients with exudative AMD, 120 patients with early AMD and 140 control individuals without AMD. Frequency of the minor allele C of rs10033900 in exudative AMD, early AMD and control groups were 17.4% (40/230), 22.5% (54/240) and 29.3% (82/280), respectively. Significant association of rs10033900 was detected with exudative AMD (χ(2) = 9.82, P = 0.002, OR = 0.57, 95%CI: 0.36 - 0.88), but not with early AMD (χ(2) = 3.08, P = 0.079). Frequency of the minor allele G of rs13117504 in exudative AMD, early AMD and control groups were 38.6% (91/236), 54.2% (130/240) and 51.8% (145/280), respectively. Significant association of rs13117504 was detected with exudative AMD (χ(2) = 9.03, P = 0.003, OR = 0.56, 95%CI: 0.39 - 0.82), but not with early AMD (χ(2) = 0.29, P = 0.59). No association was detected between rs2285714 and exudative AMD (χ(2) = 0.72, P = 0.31) or between rs2285714 and early AMD (χ(2) = 2.30, P = 0.13).
  
  
  CONCLUSIONS
  The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.
authors.affiliation: Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
authors.forename: Pei-bei
authors.initials: PB
authors.lastname: Wu
authors.forename: Hong
authors.initials: H
authors.lastname: Gu
authors.forename: Xiu-fen
authors.initials: XF
authors.lastname: Yang
authors.forename: Ning-pu
authors.initials: NP
authors.lastname: Liu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D017244:Complement Factor I