Association of TLR3 gene polymorphisms with age-related macular degeneration

Purpose: In this study, we selected rs3775291 and rs3775296 polymorphisms of from toll-like receptor 3 (TLR3) gene to investigate their association with the susceptibility of age-related macular degeneration (ARMD or AMD). Haplotypes of the two polymorphisms were also detected in AMD patients. Methods: A hospital-based multiple- center case-control study was designed. 110 AMD cases and 108 healthy controls were enrolled in this study chi(2) test was applied to count and analyze the genotype and allele frequencies in case and control groups. The relationship between TLR3 polymorphisms and the susceptibility of AMD was presented by odds ratios (ORs) and 95% confidence intervals (CIs). Results: The genotype distributions of TLR3 rs3775291 and rs3775296 polymorphisms in control group were in accordance with Hardy-Weinberg equilibrium (HWE) (P>0.05). The distributions of rs3775291 polymorphism AG genotype in case and control groups had statistically significant differences (P<0.05), and AG genotype could increase the onset risk of AMD by 1.89 times when compared with GG genotype (OR=1.89, 95% CI=1.09-3.28). In addition, rs3775296 polymorphism TT genotype was related to the occurrence of AMD (OR=4.70, 95% CI=1.26-17.46), and T allele could also increase the risk of AMD (OR=1.64, 95% CI=1.06-2.55). Linkage disequilibrium (LD) and haplotype analysis suggested that rs3775291 and rs3775296 polymorphisms formed 4 haplotypes, and the distribution differences of one of them, namely T-A haplotype, between case and control groups were statistically significant (P<0.05). Conclusions: TLR3 polymorphisms can increase the onset risk of AMD.