A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

Silke Schmidt, Caroline C.W. Klaver, Ann M. Saunders, Eric A. Postel, Monica A. De La Paz, Anita Agarwal, Kent W. Small, Nitin Udar, John M. Ong, Meenal V. Chalukya, Anthony Nesburn, M. Cristina Kenney, Ruth M. Domurath, Molly Hogan, Tammy S. Mah, Yvette P. Conley, Robert E. Ferrell, Daniel E. Weeks, Paulus T.V.M. De Jong, Cornelia M. Van DuijnJonathan L. Haines, Margaret A. Pericak-Vance, Michael B. Gorin

Research output: Contribution to journalArticlepeer-review

121 Scopus citations


Age-related maculopathy (ARM) is a multifactorial disorder known to have a substantial genetic component. The ε4 allele of the apolipoprotein E gene (APOE-4) has previously been reported to have a protective effect on ARM risk, while the APOE-2 allele may increase disease risk. This study combined four independent data sets (three US and one European) of Caucasian ARM patients and controls in order to obtain better statistical power to examine the role of APOE in ARM. APOE genotype and allele frequencies were compared for 617 ARM cases and 1260 controls, adjusting for age and sex differences between the two groups via multiple logistic regression. The protective effect of the APOE-4 allele on ARM risk was confirmed (age- and sex-adjusted odds ratio (OR) for APOE-4 carriers 0.54, 95% confidence interval (CI) 0.41-0.70, p < 0.0001). The effect of APOE-4 did not differ significantly between males and females and was observed consistently for both atrophic and neovascular ARM. Evidence for an increased risk of ARM due to the APOE-2 allele was found for men, but not for women (OR for men 1.54, 95% CI 0.97-2.45; OR for women 0.74, 95% CI 0.52-1.06, p = 0.01 for interaction of sex and APOE-2 carrier status). These data confirm that the APOE-4 allele, or an allele in linkage disequilibrium with it, reduces the risk of ARM. They also suggest that the effect of the APOE-2 allele may vary by gender, and that APOE-2 may confer an increased risk only to males.

Original languageEnglish (US)
Pages (from-to)209-223
Number of pages15
JournalOphthalmic Genetics
Issue number4
StatePublished - Dec 2002
Externally publishedYes


  • Age-related macular degeneration
  • APOE
  • Candidate geness
  • Epidemiology

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)


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