Association of apolipoprotein e alleles with susceptibility to age-related macular degeneration in Iranian patients

This study aimed at investigating the association between alleles and genotypes of APOE and developing Age-related macular degeneration (AMD). After ophthalmological examination, 120 patients with confirmed AMD and 120 healthy controls were enrolled. 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 sample population. The frequency distribution of APOE alleles and genotypes differed significantly between the patients and control groups (P<0.05). The frequency of APOEε2 was higher in patients than that of the 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 in logistic regression analysis (P = 0.00, OR= 3.439; CI 95% 1.664-7.108). On the other hand, the frequency distribution of APOEε4 was not statistically different between patients and healthy controls. The results showed a moderate positive association between APOE ε2 and AMD, but no specific role was found for APOE ε4 in protection against AMD. However, more studies are required to clarify the possible role of APOE in the pathogenesis of AMD.