BACKGROUND: Increasing evidence shows that polymorphisms in a number of genes can influence age-related macular degeneration (AMD) risk. This study aimed to investigate the association of CX3CR1 839C/T, CX3CR1 745G/A, PLEKHA1 958A/G, VEGFA +674C/T, and VEGFA +936C/T polymorphisms with AMD risk among Chinese.

MATERIAL AND METHODS: The polymorphisms were genotyped on 827 AMD patients and 827 controls, and the odds ratios (ORs) were calculated under allele, additive, recessive, and dominant genetic models. Logistic regression analysis was performed to control for potential confounders (age, sex, and smoking status).

RESULTS: We showed that all the 5 polymorphisms showed a significant association with AMD risk under the additive model (for homozygous mutant genotype) and at least 1 other genetic model, both before and after adjustment for the potential confounders. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450–0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736–0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141–6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231–6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227–5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253–2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058–1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118–1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105–2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027–2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031–1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062–1.408, P<0.001).

CONCLUSIONS: We conclude that the 5 polymorphisms could serve as biomarkers for AMD susceptibility.

Keywords: Genetic Predisposition to Disease, Genotyping Techniques, Macular Degeneration, Odds Ratio, Polymorphism, Genetic