Association Study Between Genetic Single Nucleotide Polymorphisms And Age-related Macular Degeneration

Purpose: The association study between genetic single nucleotide polymorphisms(SNPs) and age-related macular degeneration (AMD) has been reported among otherethnic groups. There are different susceptive genes among different ethnic groups. Itis necessary to study the association between SNPs and AMD in Chinese Hanpopulation. It is helpful to explore pathogeny and genetic treatment on AMD inChinese Han population.Methods: The study was carried out on retrospective case-control methods.140unrelated patients with AMD and216health controls were recruited. Peripheralvenous blood samples were collected from every participant for DNA extraction. SixSNPs(rs1410996，rs800292，rs4151667，rs9332739，rs2230199，rs10490924)weregenotyped with Real-time fluorescent quantitative PCR. To evaluate the associationbetween SNPs and AMD and possible interactions between SNPs, the analysis wasdone with logistic regression models.Results: After adjusting both age and gender, LOC387715rs10490924TT was foundstatistically significant associations with AMD (P=0.0001, OR:3.46,95%CI:1.84,6.51). Both CFH rs800292AA and CFH rs1410996CC were all shown to beassociated with reduced risk for AMD (P=0.04, OR:0.48,95%CI:0.24-0.96; P=0.04,OR:0.48,95%CI:0.24,0.98, respectively). CFB rs4151667, C2rs9332739and C3rs2230199failed to show statistically significant associations with AMD (P>0.05).C-A haplotype (CFH rs1410996–rs800292) and T-G haplotype (CFB rs4151667-C2rs9332739) showed a protective effect against AMD (OR=0.54,95%CI:0.39,0.75;OR=0.11,95%CI:0.02,0.50, respectively). C-G haplotype (CFH rs1410996-rs800292)、T-A haplotype (CFH rs1410996–rs800292) and A-G haplotype (CFBrs4151667-C2rs9332739) appeared to increase the risk of AMD (OR=2.75,95%CI:1.54,4.90; OR=2.44,95%CI:1.27,4.68; OR=9.08,95%CI:2.00,41.17, respectively). The combined effect of rs10490924TT and rs800292GG was5.74fold(95%CI:2.09,15.77).Conclusions: LOC387715rs10490924TT is a risk factor for AMD in Chinese Hanpopulation. Rs800292AA and rs1410996CC were all shown to be associated withreduced risk for AMD. Rs4151667, rs9332739and rs2230199failed to showstatistically significant associations with AMD. There may be gene-gene interactionbetween LOC387715and CFH.