Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population

Ophthalmic Res. 2001 Nov-Dec;33(6):325-8. doi: 10.1159/000055688.


Objective: Apolipoprotein E (apoE) is an important regulator of cholesterol and lipid transport during compensatory synaptogenesis. Our purpose was to investigate the role of apoE gene polymorphisms in Italian patients with age-related macular degeneration (AMD).

Methods: We used the polymerase chain reaction technique to analyze apoE genotypes in 87 patients with AMD, in 47 age-matched controls and in 1,287 individuals from a general reference population.

Results: The frequency of allele epsilon4 carriers was significantly higher (p = 0.002) in the general population than in AMD patients, while the frequency of allele epsilon2 was higher in the patients (p = 0.069) with an increased risk for AMD in the patients versus the population-based controls (odds ratio = 1.7; 95% confidence interval: 1.0-2.9). Allele epsilon4 was associated with a decreased risk for AMD in the patients versus the population-based controls (odds ratio = 0.3; 95% confidence interval: 0.1-0.8).

Clinical relevance: These data suggest that apoE testing may represent a tool for the evaluation of the relative risk of AMD. Consequently, a preventive strategy can be initiated at an early stage of the disorder.

Conclusion: The apoE gene polymorphism showed a significant association with the risk of AMD. The lower frequency of the epsilon4 allele in AMD patients suggests that the apoE gene could play a protective role in the pathogenesis of the disease. In contrast, the epsilon2 allele was found associated with a slightly increased risk of AMD, although we did not find a statistically significant effect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Apolipoproteins E / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Italy / epidemiology
  • Macular Degeneration / ethnology
  • Macular Degeneration / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Risk Factors


  • Apolipoproteins E