The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration
Abstract
Purpose Apolipoprotein E (ApoE) is a polymorphic protein that plays a central part in plasma metabolism of lipids and in central nervous system lipid homeostasis. Our purpose was to evaluate the potential role of ApoE polymorphism in the occurrence of exudative age-related macular degeneration associated with drusen, which contain lipids.Methods We analyzed apolipoprotein E genotypes in 116 unrelated patients with exudative age-related macular degeneration in one eye and hard drusen (n = 39) or soft drusen (n = 77) in the other eye, and compared the results with those of age-matched and sex-matched control subjects (n = 168). Apolipoprotein E alleles were detected by a ploymerase chain reaction-based method.Results A lower frequency of the epsilon4 allele carriers was observed in the exudative age-related macular degeneration group compared with control subjects (12.1% vs 28.6%, respectively; P < .0009). The epsilon4 allele was less frequent in the age-related macular degeneration group compared with control subjects (0.073 vs 0.149, respectively; P < .006). This decreased frequency of the epsilon4 allele was mainly observed in the soft drusen subgroup compared with control subjects (0.045 vs 0.149, respectively; P < .0009).Conclusion This lower relative frequency of the epsilon4 allele supports the hypothesis that the ApoE gene is a genetic protective factor identified in age-related macular degeneration.
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Association has been demonstrated with several additional loci, each providing an entry-point into AMD biology and potential therapeutic targets.
“Association has also been demonstrated with several additional loci14–20, each providing an entry-point into AMD biology and potential therapeutic targets.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [15]
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- Authors
- Souied, E. H., Benlian, P., Amouyel, P., Feingold, J., Lagarde, J.-P., Munnich, A., Kaplan, J., Coscas, G., & Soubrane, G.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- Hôpital Saint-Antoine (FR)
- Inserm (FR)
- Sorbonne Université (FR)
- Corresponding author
- Soubrane, Gisèle
- Venue
- American Journal of Ophthalmology
- Publisher
- Elsevier BV
- Published
- 1998-03
- Volume
- 125
- Issue
- 3
- Pages
- 353-359
- ISSN
- 0002-9394 (ISSN-L)
- OpenAlex
- W1967749499
- Cited by
- 292
- References
- 30
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 4 · 2022: 7 · 2021: 4 · 2020: 5 · 2019: 4 · 2018: 6 · 2017: 6 · 2016: 7 · 2015: 13 · 2014: 11 · 2013: 15 · 2012: 14
- FWCI
- 10.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Keywords
- apolipoprotein E, APOE ε4, neovascular age-related macular degeneration, drusen, soft drusen, APOE polymorphism, genetic susceptibility
- MeSH terms
- Aged, Aged, 80 and over, Alleles, Apolipoproteins E, Choroid, Exudates and Transudates, Female, Gene Frequency, Genotype, Humans, Macular Degeneration, Male, Middle Aged, Neovascularization, Pathologic, Polymorphism, Genetic, Risk Factors, Retinal Drusen, Polymerase Chain Reaction, Apolipoprotein E4
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