Association of Apolipoprotein E Alleles with Susceptibility to Age-Related Macular Degeneration in Iranian Patients

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, ۱۲۰ patients with confirmed AMD and ۱۲۰ 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<۰.۰۵). The frequency of APOE;epsilon۲ in patients was higher than controls (P = ۰.۰۰) 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 = ۰.۰۰, OR= ۳.۴۳۹ CI ۹۵% ۱.۶۶۴-۷.۱۰۸). On the other hand, the frequency distribution of APOE;epsilon۴ was not statistically different between patients and healthy controls. Conclusion: The results show a moderate positive association between APOE ;epsilon۲ and AMD, but current data does not show any role for APOE ;epsilon۴ in protection from AMD. However, more studies are required to reveal the possible role of APOE in the pathogenesis of AMD.

Keywords:

age-related macular degeneration , association study , apolipoprotein E , vision