Association of complement factor H polymorphisms with exudative age-related macular degeneration.
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.
Chen
Li Jia
LJ
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong. lijia_chen@yahoo.com <lijia_chen@yahoo.com>
Liu
David T L
DT
Tam
Pancy O S
PO
Chan
Wai Man
WM
Liu
Ke
K
Chong
Kelvin K L
KK
Lam
Dennis S C
DS
Pang
Chi Pui
CP
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
D014443:Tyrosine; D006639:Histidine; D017242:Complement Factor H