title: Different hereditary contribution of the CFH gene between polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese Han people.
abstract: OBJECTIVE
  To investigate whether 11 variants in complement factor H gene contributed differently in patients with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) of Chinese descent.
  
  
  METHODS
  We performed a case-control study in a group of Chinese patients with nAMD (n = 344) or PCV (n = 368) and contrasted the results against an independent control group comprising 511 mild cataract patients without any evidence of age-related maculopathy. Association analysis of allele and genotype frequencies was performed for 11 haplotype-tagging single-nucleotide polymorphisms (SNPs) at the CFH locus (rs1061170, rs1329428, rs1410996, rs2284664, rs375396, rs529825, rs551397, rs7540032, rs800292, rs2274700, and rs1065489). Multinomial logistic regression analyses were performed to estimate and compare the effect of these 11 CFH polymorphisms on AMD and PCV, using the wild-type genotype as reference. Differences in the observed genotypic distributions between cases and controls were tested by using χ(2) tests, with age and sex adjusted for using logistic regression.
  
  
  RESULTS
  CFH rs1065489 was not significantly associated with the nAMD phenotype in Chinese collections either on univariate or multivariate analysis (P > 0.05 for all comparisons). The other 10 SNPs of CFH were significantly associated with the nAMD phenotype. As for PCV, all 11 SNP markers were significantly associated with risk of PCV before or after correction for age and sex differences. Eight of the 11 SNP markers showed significant evidence of heterogeneity between AMD and PCV (P < 0.05 for all comparisons).
  
  
  CONCLUSIONS
  Our data suggest that the genetic architecture at the CFH locus is complex with some markers showing significant skewing of the genotypes toward nAMD or PCV in Asians. This further supports the clinical observation that nAMD and PCV could have distinct pathogenesis mechanisms, which will require larger studies to accurately dissect.
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, China.
authors.forename: Lvzhen
authors.initials: L
authors.lastname: Huang
authors.forename: Yingjie
authors.initials: Y
authors.lastname: Li
authors.forename: Shicheng
authors.initials: S
authors.lastname: Guo
authors.forename: Yaoyao
authors.initials: Y
authors.lastname: Sun
authors.forename: Chunfang
authors.initials: C
authors.lastname: Zhang
authors.forename: Yujing
authors.initials: Y
authors.lastname: Bai
authors.forename: Shanshan
authors.initials: S
authors.lastname: Li
authors.forename: Fei
authors.initials: F
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Zhao
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Wenzhen
authors.initials: W
authors.lastname: Yu
authors.forename: Mingwei
authors.initials: M
authors.lastname: Zhao
authors.forename: Chiea Chuen
authors.initials: CC
authors.lastname: Khor
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002681:China / Q000453:epidemiology; D002829:Choroid / Q000098:blood supply*; D015862:Choroid Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D012189:Retrospective Studies
chemical_list: D017242:Complement Factor H; D004247:DNA
keywords: complement factor H; neovascular age-related macular degeneration; polypoidal choroidal vasculopathy; single-nucleotide polymorphism