title: Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.
abstract: OBJECTIVE
  Variants in the complement factor H (CFH) gene have been shown to be strongly associated with age-related macular degeneration (AMD). In this study, sequence alterations in CFH were investigated in 163 Chinese patients with exudative AMD and 155 unrelated Chinese control subjects.
  
  
  METHODS
  All the 22 CFH exons, intron-exon boundaries, and promoter sequences were screened by polymerase chain reaction and DNA sequencing.
  
  
  RESULTS
  Fifty-eight sequence changes, 42 of them novel, were identified. Six SNPs with an allele frequency >30% were significantly associated with exudative AMD. SNP rs3753396 was novel; the rest had been reported: rs3753394, rs551397, rs800292, rs2274700, and rs1329428. Two haplotype blocks were constructed. The TG haplotype for rs551397 and rs800292 was the major haplotype that conferred a significantly increased susceptibility to exudative AMD (P(corr) = 0.0001, OR = 1.91, 95% CI = 1.36-2.68).
  
  
  CONCLUSIONS
  The findings support prior evidence that the CFH gene is one of the AMD-associated genes. There is a different distribution pattern of CFH variants in the Chinese compared with other populations. Individual SNP and haplotype analyses revealed that the ancient alleles at the 5' end of CFH contribute to an increased susceptibility to exudative AMD.
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Tsz Kin
authors.initials: TK
authors.lastname: Ng
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: Yi Jun
authors.initials: YJ
authors.lastname: Hu
authors.forename: Kelvin K L
authors.initials: KK
authors.lastname: Chong
authors.forename: Charles S L
authors.initials: CS
authors.lastname: Lau
authors.forename: Sylvia W Y
authors.initials: SW
authors.lastname: Chiang
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; D002681:China / Q000453:epidemiology; D017242:Complement Factor H / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H