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

Paul N. Baird, Andrea J. Richardson, Luba D. Robman, Peter N. Dimitrov, Gabriella Tikellis, Catherine A. McCarty, Robyn H. Guymer

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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% 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 ε2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.

Original languageEnglish
Pages (from-to)337-342
Number of pages6
JournalHuman Mutation
Issue number4
Publication statusPublished - 1 Apr 2006


  • Age-related macular degeneration
  • Allele
  • Apolipoprotein E
  • Association
  • Gender
  • Progression

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