Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)

Progression of age,related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (F)2 genotype (c.526C > T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were found to be strongly associated with disease with a significant 4.8-fold increased relative risk compared to individuals with all 0 genotype (c.388T > C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [Cl], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an 0 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% Cl, 0.96-19.09). This finding was present only in females who progressed with AMD, which suggests that there may be a gender-specific role in progression of AMD in individuals with an epsilon 2 allele. A gender related factor is therefore implicated either directly or indirectly in the AMD disease process.