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

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 a ge-related macular degeneration (AMD). Methods: We used the polymerase chai n 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 p opulation. Results: The frequency of allele epsilon4 carriers was significa ntly higher (p = 0.002) in the general population than in AMD patients, whi le 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 epsil on4 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 represen t a tool for the evaluation of the relative risk of AMD. Consequently, a pr eventive strategy can be initiated at an early stage of the disorder. Concl usion:The apoE gene polymorphism showed a significant association with the risk of AMD. The lower frequency of the epsilon4 allele in AMD patients sug gests that the apoE gene could play a protective role in the pathogenesis o f the disease. In contrast, the epsilon2 allele was found associated with a slightly increased risk of AMD, although we did not find a statistically s ignificant effect. Copyright (C) 2001 S. Karger AG, Basel.