title: Association of complement factor H polymorphisms with exudative age-related macular degeneration.
abstract: OBJECTIVE
  Variants in the complement factor H (CFH) gene have been reported to be associated with age-related macular degeneration (AMD). We conducted a case-control association study to investigate the association of 6 single nucleotide polymorphisms (SNPs) in CFH with exudative AMD in the Chinese population.
  
  
  METHODS
  We recruited 163 cases and 244 controls, all ethnic Chinese, with complete ophthalmic examination including fundus investigation. Cigarette smoking was recorded. Six SNPs (dbSNP ID: rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428) in the CFH gene were genotyped by Taqman assays.
  
  
  RESULTS
  Y402H (1277 T>C) has low frequencies in our study population, 5.8% in patients and 3.9% in controls. It was not associated with exudative AMD adjusted for age, gender and smoking. Significant associations were detected for AMD with rs3753394 (p=0.003, p(corr)=0.018), rs800292 (p=0.00053, p(corr)=0.0032), and rs1329428 (p=0.00092, p(corr)=0.0028), p(corr) values obtained after adjustment for multicomparison. A haplotype containing these four SNPs (TGTC) was found to confer a significantly increased likelihood of exudative AMD with an odds ratio of 1.68 (95% CI: 1.26-2.23) p=0.0003 (p(corr)=0.0026 after correction by permutation test). Logistic regression analysis detected no interactions between the SNPs and age, gender or smoking.
  
  
  CONCLUSIONS
  We have found differences in the association between the CFH gene and exudative AMD in Chinese from Caucasians and Japanese. We detected SNP rs3753394 in the CFH promoter carrying a significantly increased risk for exudative AMD.
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong. lijia_chen@yahoo.com <lijia_chen@yahoo.com>
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
authors.forename: David T L
authors.initials: DT
authors.lastname: Liu
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: Wai Man
authors.initials: WM
authors.lastname: Chan
authors.forename: Ke
authors.initials: K
authors.lastname: Liu
authors.forename: Kelvin K L
authors.initials: KK
authors.lastname: Chong
authors.forename: Dennis S C
authors.initials: DS
authors.lastname: Lam
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics*; D005122:Exudates and Transudates / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006639:Histidine; D006801:Humans; D016013:Likelihood Functions; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008268:Macular Degeneration / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D014443:Tyrosine
chemical_list: D014443:Tyrosine; D006639:Histidine; D017242:Complement Factor H