Cited by 105Retinal Diseases and TreatmentsRetinal Development and DisordersRetinal Imaging and Analysis

Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)

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Baird, Paul N., Richardson, Andrea J., Robman, Luba D., Dimitrov, Peter N., Tikellis, Gabriella, McCarty, Catherine A., Guymer, Robyn H.·2006·Human Mutation

Abstract

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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References 39 · Cited by 105

Research works printed but not linked: 1

  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
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
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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