title: Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
abstract: OBJECTIVE
  We  assessed the association between complement pathway genes and age-related macular degeneration (AMD) in a Chinese population.
  
  
  METHODS
  In a case-control study, 165 AMD patients and 216 unrelated controls were recruited from two hospitals in central China. We selected and genotyped six single nucleotide polymorphisms (SNPs) of four complement pathway genes, including rs800292 and rs1410996 of complement H (CFH), rs9332739 of complement 2 (C2), rs4151667 of complement factor B (CFB), and rs2241394 and rs2230199 of complement 3 (C3). The associations between SNPs and AMD, adjusted by age and sex, were assessed by using logistic regression models and haplotype association analysis.
  
  
  RESULTS
  In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. The haplotype of C2/CFB also was associated significantly with AMD, and the adjusted OR was 8.86 (95% CI 1.88-41.69) for the haplotype block of rs9332739-rs4151667 (haplotype G-A versus G-T), though no relationship was found in genotype association analysis of the two SNPs of C2/CFB. With the sample size of our study, no relationship was found for AMD and the two SNPs of C3.
  
  
  CONCLUSIONS
  Gene variants in CFH and C2/CFB contribute to AMD in the Chinese population.
authors.affiliation: Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Wu
authors.forename: Qiushan
authors.initials: Q
authors.lastname: Tao
authors.forename: Wen
authors.initials: W
authors.lastname: Chen
authors.forename: Zhi
authors.initials: Z
authors.lastname: Wang
authors.forename: Yanping
authors.initials: Y
authors.lastname: Song
authors.forename: Shuangyan
authors.initials: S
authors.lastname: Sheng
authors.forename: Pengcheng
authors.initials: P
authors.lastname: Li
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhou
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D003175:Complement C2 / Q000235:genetics / Q000378:metabolism; D003176:Complement C3 / Q000235:genetics / Q000378:metabolism; D011415:Complement Factor B / Q000235:genetics / Q000378:metabolism; D017242:Complement Factor H / Q000235:genetics / Q000378:metabolism; D003165:Complement System Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D003175:Complement C2; D003176:Complement C3; D017242:Complement Factor H; D003165:Complement System Proteins; D011415:Complement Factor B