Association of complement factor H polymorphisms with exudativeage-related macular degeneration

[摘要] Purpose: Variants in the complement factor H (CFH) gene have beenreported to be associated with age-related macular degeneration (AMD).We conducted a case-control association study to investigate theassociation of 6 single nucleotide polymorphisms (SNPs) in CFH withexudative AMD in the Chinese population.Methods: We recruited 163 cases and 244 controls, all ethnicChinese, with complete ophthalmic examination including fundusinvestigation. Cigarette smoking was recorded. Six SNPs (dbSNP ID:rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428) inthe CFH gene were genotyped by Taqman assays.Results: Y402H (1277 T>C) has low frequencies in our studypopulation, 5.8% in patients and 3.9% in controls. It was not associatedwith exudative AMD adjusted for age, gender and smoking. Significantassociations were detected for AMD with rs3753394 (p=0.003,pcorr=0.018), rs800292 (p=0.00053, pcorr=0.0032), andrs1329428 (p=0.00092, pcorr=0.0028), pcorr values obtainedafter adjustment for multicomparison. A haplotype containing these fourSNPs (TGTC) was found to confer a significantly increased likelihood ofexudative AMD with an odds ratio of 1.68 (95% CI: 1.26-2.23) p=0.0003(pcorr=0.0026 after correction by permutation test). Logisticregression analysis detected no interactions between the SNPs and age,gender or smoking.Conclusions: We have found differences in the association betweenthe CFH gene and exudative AMD in Chinese from Caucasians and Japanese.We detected SNP rs3753394 in the CFH promoter carrying a significantlyincreased risk for exudative AMD.

[学科分类] 生物化学/生物物理