Background: We aimed here to investigate the association between alleles and genotypes of APOE and Age-related macular degeneration (AMD) development.
Materials and Methods: After ophthalmological examination, 120 patients with confirmed AMD and 120 healthy controls were enrolled in the study. The polymorphic segment of APOE gene was PCR-amplified and sequenced to determine the frequency distribution of polymorphic alleles and genotypes of this gene in the sample population.
Results: The frequency distribution of APOE alleles and genotypes differed significantly between the patients and the control groups (P<0.05). The frequency of APOE&epsilon2 in patients was higher than controls (P = 0.00) and this variant allele showed a significant association with AMD even after removal of the effects of age, sex and smoking by logestic regression analysis (P = 0.00, OR= 3.439 CI 95% 1.664-7.108). On the other hand, the frequency distribution of APOE&epsilon4 was not statistically different between patients and healthy controls.
Conclusion: The results show a moderate positive association between APOE &epsilon2 and AMD, but current data does not show any role for APOE &epsilon4 in protection from AMD. However, more studies are required to reveal the possible role of APOE in the pathogenesis of AMD.