title: Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD).
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 (epsilon)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 epsilon4 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 epsilon3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% CI, 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 epsilon2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia. pnb@unimelb.edu.au
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
authors.forename: Andrea J
authors.initials: AJ
authors.lastname: Richardson
authors.forename: Luba D
authors.initials: LD
authors.lastname: Robman
authors.forename: Peter N
authors.initials: PN
authors.lastname: Dimitrov
authors.forename: Gabriella
authors.initials: G
authors.lastname: Tikellis
authors.forename: Catherine A
authors.initials: CA
authors.lastname: McCarty
authors.forename: Robyn H
authors.initials: RH
authors.lastname: Guymer
mesh_terms: D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E