Interaction of susceptibility genes in patients with exudative age-related macular degeneration

Abstract

To determine the interaction of susceptibility genes in patients with exudative age-related macular degeneration (AMD) in a Chinese case-control cohort. It was a case-control study. Six single nucleotide polymorphisms (SNPs) previously genotyped in cases with exudative AMD and control individuals, including complement factor H (CFH) non-coding variant rs1410996, CFH rs1061170 (Y402H), LOC387715 rs10490924, C3 rs2230199 (R102G), C3 rs1047286 (P314L), and HTRA1 rs11200638, were selected for analyzing the interactions among susceptibility genes. The numerical data were examined by Student t test. The genotype distributions between cases and controls were compared using the Chi2 test. Genetic interactions were examined using logistic regression model and synergy index (SI) value based on crossover analysis table. A total of 150 cases with exudative AMD (88 male, 62 female) and 161 control individuals (84 male, 77 female) were included in this study. There was no significant difference in age (t = 0.91, P = 0.37) or gender (Chi2 = 1.32, P = 0.25) between the AMD cases and the controls. SNPs associated with the risk of exudative AMD included CFH non-coding variant rs1410996 (Chi2 = 17.83, P < 0.05), LOC387715 rs10490924 (Chi2 = 17.71, P < 0.05) and HTRA1 rs11200138 (Chi2 = 2.77, P < 0.05). No interaction was observed between CFH rs1410996 and LOC387715 rs10490924 (logistic regression, P = 0.41; SI = 1.04, P = 0.45) or between CFH rs1410996 and HTRA1 rs 11200138 (logistic regression, P = 0.91; SI = 1.42, P = 0.17). The data suggest that LOC387715 rs10490924 / HTRA1 rs11200138 and CFH rs1410996 are independently associated with the risk of exudative AMD in Chinese.