Publication
Title
Genetic association of apolipoprotein E with age-related macular degeneration
Author
Abstract
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 ɛ4 allele was associated with a decreased risk (odds ratio 0.43 [95% confidence interval 0.210.88]), and the ɛ2 allele was associated with a slightly increased risk of AMD (odds ratio 1.5 [95% confidence interval 0.82.82]). 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-maculaethat is, drusen and basal laminar deposit. Our results suggest that APOE is a susceptibility gene for AMD.
Language
English
Source (journal)
The American journal of human genetics / American Society of Human Genetics [Bethesda, Md] - New York, N.Y., 1949, currens
Publication
New York, N.Y. : 1998
ISSN
0002-9297 [print]
1537-6605 [online]
Volume/pages
63(1998), p. 200-206
ISI
000074761000028
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 08.10.2008
Last edited 31.05.2017
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