Association Of Genetic And Environmental Factors With Age-Related Macular Degeneration In A Chinese Population

Purpose:Several single nucleotide polymorphisms (SNPs) have been associated with age-related macular degeneration (AMD) in many reports. However, due to underlying heterogeneity in different races and areas, the genetic pathogenesis of AMD is still not well understood. We aimed to investigate whether the genetic variants reported in other populations were associated with AMD in the Chinese population. In addition, we estimated the environmental factors in the development of AMD.Methods:151persons with AMD and216control subjects were recruited in the case-control study. All participants underwent a comprehensive ophthalmic examination and were asked to take an epidemiologic survey by using a questionnaire. We collected peripheral venous blood samples from all the participants for DNA extraction. A total of5SNPs that are located in the age-related maculopathy susceptibility2(ARMS2, rs10490924), the complement factor H (CFH, rs3753394), the complement component2(C2, rs547154), the complement factor B(CFB, rs541862) and the complement component3(C3, rs2241394) genes were selected and genotyped. The associations of genetic and environmental factors with AMD were investigated with multiple logistic models.Results:We found lower education level and long time of exposure to sunlight had a significant association with the developing of AMD adjusted by both age and gender, with odds ratio (ORs) of3.30(95%confidence interval(CI):2.03-5.34) and1.67(95%CI:1.03-2.71), respectively. Regular fruit intake might decrease the risk of AMD and the OR was0.46(95%CI:0.29-0.72). ARMS2rs10490924showed significant associations with AMD in both allelic (T versus G)and genotype analyses (TT vs GG), and the ORs were1.97(95%CI:1.44-2.69) and3.54(95%CI:1.89-6.65), respectively. CFB rs541862showed significant association with AMD only in allelic analysis (C vs T), and the OR was0.49(95%CI:0.25-0.99). None of the other three SNPs (CFH rs3753394, C2rs547154, C3rs2241394)was associated with AMD in our study. In addition, in our study, we found the two SNPs C2rs547154and CFB rs541862to be in strong LD (D’=1.0, r2=0.859).Conclusions:In our study, we found in a Chinese population lower education level and long time of exposure to sunlight had a significant association with the developing of AMD. Rs10490924in ARMS2gene showed a significant association with the risk for AMD. However, the genetic effect of C2rs547154, CFH rs3753394and C3rs2241394on AMD, which are known to be important in other populations, was not significant with AMD in our study.