Journal article
Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)
PN Baird, AJ Richardson, LD Robman, PN Dimitrov, G Tikellis, CA McCarty, RH Guymer
Human Mutation | WILEY-LISS | Published : 2006
DOI: 10.1002/humu.20288
Abstract
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 (ε) 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 an å4 genotype (c.388T > C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [CI], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an ε3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95%..
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