Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.
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.
Ng
Tsz Kin
TK
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Chen
Li Jia
LJ
Liu
David T L
DT
Tam
Pancy O S
PO
Chan
Wai Man
WM
Liu
Ke
K
Hu
Yi Jun
YJ
Chong
Kelvin K L
KK
Lau
Charles S L
CS
Chiang
Sylvia W Y
SW
Lam
Dennis S C
DS
Pang
Chi Pui
CP
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
C493495:CFH protein, human; D017242:Complement Factor H