title: Association of complement factor H gene polymorphisms with age-related macular egeneration susceptibility.
abstract: OBJECTIVE
  This study was aimed to confirm whether I62V and Y402H polymorphisms of complement factor H (CFH) were risk factors for age-related macular degeneration (AMD).
  
  
  METHODS
  109 AMD patients and 165 AMD-free controls were enrolled in the study. The I62V and Y402H polymorphisms were analyzed by polymerase chain reaction-restriction fragment length of polymorphism (PCR-RFLP). Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by the X2 test to assess the relationship of I62V and Y402H polymorphisms with AMD risk. Analysis of haplotype and stratification by age and smoking status was conducted as well.
  
  
  RESULTS
  AA genotype and A allele of I62V polymorphism was significantly associated with increased risk for AMD (OR=3.75, 95% CI=1.70-8.30; OR=1.64, 95% CI=1.14-2.36). For Y402H polymorphism, CT genotype showed strong effects on the occurrence of AMD (OR=2.10, 95% CI=1.04-4.27). Moreover, C allele was also a risk factor for AMD (OR=1.95, 95% CI=1.02-3.72). The haplotypes analysis suggested that the risk for AT haplotype carriers was high, compared with GT haplotype (OR=3.91, 95% CI=2.58-5.94). In addition, we found that smoking status could affect the genotype distribution of Y402H polymorphism (P<0.05).
  
  
  CONCLUSIONS
  Our results revealed that CFH polymorphisms I62V and Y402H might be associated with the susceptibility to AMD in Chinese population.
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Xiao-Feng
authors.initials: XF
authors.lastname: Hao
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Li-Ke
authors.initials: LK
authors.lastname: Xie
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: You-Zhi
authors.initials: YZ
authors.lastname: Tang
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Wan-Kun
authors.initials: WK
authors.lastname: Xie
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Zhi-Fang
authors.initials: ZF
authors.lastname: Zhang
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Yi-Xin
authors.initials: YX
authors.lastname: Qi
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Wen-Zheng
authors.initials: WZ
authors.lastname: Xiao
authors.affiliation: Eye Hospital of China Academy of Chinese Medical Sciences Beijing 100040, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012907:Smoking / Q000009:adverse effects
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H
keywords: AMD; CFH; polymorphism; susceptibility