title: Complement factor I polymorphism is not associated with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a chinese population.
abstract: OBJECTIVE
  To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study.
  
  
  METHODS
  A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs10033900 and rs2285714 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ(2) test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described.
  
  
  RESULTS
  No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity.
  
  
  CONCLUSIONS
  In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the CFI gene and AMD.
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, PR China.
authors.forename: Fei
authors.initials: F
authors.lastname: Yang
authors.forename: Yaoyao
authors.initials: Y
authors.lastname: Sun
authors.forename: Zhongtian
authors.initials: Z
authors.lastname: Jin
authors.forename: Yong
authors.initials: Y
authors.lastname: Cheng
authors.forename: Shanshan
authors.initials: S
authors.lastname: Li
authors.forename: Yujing
authors.initials: Y
authors.lastname: Bai
authors.forename: Lvzhen
authors.initials: L
authors.lastname: Huang
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000235:genetics*; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: D017244:Complement Factor I