Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)
Open accessAbstract
Progression of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (epsilon)2 genotype (c.526C>T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were found to be strongly associated with disease with a significant 4.8-fold increased relative risk compared to individuals with an epsilon4 genotype (c.388T>C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [CI], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an epsilon3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% CI, 0.96-19.09). This finding was present only in females who progressed with AMD, which suggests that there may be a gender-specific role in progression of AMD in individuals with an epsilon2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.
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Individually, APOE candidate gene studies have been relatively small and evidence for association has been modest, although together the published studies provide stronger evidence of an association between APOE and AMD.
“Individually, these studies have been relatively small, and evidence for association has been modest, although together the published studies provide stronger evidence of an association between APOE and AMD (10, 129, 177).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [10]
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References 39 · Cited by 105
Research works printed but not linked: 1
- Tikellis G, Robman L, Dimitrov P, Nicolas C, McCarty C, Guymer R. Characteristics of progression of early age-related macular degeneration: the Cardiovascular Health and Age-Related Maculopathy Study. Eye (in press).
- Authors
- Baird, P. N., Richardson, A. J., Robman, L. D., Dimitrov, P. N., Tikellis, G., McCarty, C. A., & Guymer, R. H.
- Affiliations
- The University of Melbourne (AU)
- Corresponding author
- Baird, Paul N.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2006
- Volume
- 27
- Issue
- 4
- Pages
- 337-342
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1963996422
- Cited by
- 105
- References
- 39
- Citations by year
- 2026: 1 · 2025: 3 · 2023: 5 · 2022: 3 · 2021: 6 · 2020: 2 · 2018: 3 · 2017: 3 · 2016: 3 · 2015: 8 · 2014: 6 · 2013: 8 · 2012: 9
- FWCI
- 6.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Rebecca L. Cooper Medical Research Foundation
- Ophthalmic Research Institute of Australia
- Medical Research Council
- National Health and Medical Research Council
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Keywords
- apolipoprotein E, APOE gene, age-related macular degeneration, disease progression, APOE ε2 allele, APOE genotype, sex differences, genetic association
- MeSH terms
- Aged, Aged, 80 and over, Alleles, Apolipoproteins E, DNA Mutational Analysis, Female, Genotype, Humans, Macular Degeneration, Male, Middle Aged, Risk Factors, Age Distribution, Disease Progression, Genetic Predisposition to Disease
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