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      Apolipoprotein E Polymorphisms in Age-Related Macular Degeneration in an Italian Population

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          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 Ε4 carriers was significantly higher (p = 0.002) in the general population than in AMD patients, while the frequency of allele Ε2 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 Ε4 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 Ε4 allele in AMD patients suggests that the apoE gene could play a protective role in the pathogenesis of the disease. In contrast, the Ε2 allele was found associated with a slightly increased risk of AMD, although we did not find a statistically significant effect.

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          Most cited references 6

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          Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

          Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.
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            Decreased cerebrospinal-fluid/serum leptin ratio in obesity: a possible mechanism for leptin resistance

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              Genetic association of apolipoprotein E with age-related macular degeneration.

              Age-related macular degeneration (AMD) is the most common geriatric eye disorder leading to blindness and is characterized by degeneration of the neuroepithelium in the macular area of the eye. Apolipoprotein E (apoE), the major apolipoprotein of the CNS and an important regulator of cholesterol and lipid transport, appears to be associated with neurodegeneration. The apoE gene (APOE) polymorphism is a strong risk factor for various neurodegenerative diseases, and the apoE protein has been demonstrated in disease-associated lesions of these disorders. Hypothesizing that variants of APOE act as a potential risk factor for AMD, we performed a genetic-association study among 88 AMD cases and 901 controls derived from the population-based Rotterdam Study in the Netherlands. The APOE polymorphism showed a significant association with the risk for AMD; the APOE epsilon4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.21-0. 88]), and the epsilon2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.8-2. 82]). To investigate whether apoE is directly involved in the pathogenesis of AMD, we studied apoE immunoreactivity in 15 AMD and 10 control maculae and found that apoE staining was consistently present in the disease-associated deposits in AMD-maculae-that is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.

                Author and article information

                Ophthalmic Res
                Ophthalmic Research
                S. Karger AG
                December 2001
                22 November 2001
                : 33
                : 6
                : 325-328
                aDepartment of Ophthalmology, Seconda Università di Napoli, bResearch Center IRCCS – San Giovanni Rotondo, Foggia, and cDepartment of Ophthalmology HSR, Università di Milano, Italy
                55688 Ophthalmic Res 2001;33:325–328
                © 2001 S. Karger AG, Basel

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                Page count
                Tables: 1, References: 29, Pages: 4
                Original Paper


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