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Cited by 240Retinal Diseases and TreatmentsRetinal Imaging and AnalysisGenetic Associations and Epidemiology

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Genetic influence on early age-related maculopathy

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Hammond, Christopher J, Webster, Andrew R, Snieder, Harold, Bird, Alan C, Gilbert, Clare E, Spector, Tim D·2002·Ophthalmology
DOI 10.1016/s0161-6420(01)01049-1
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Abstract

Objective Age-related macular degeneration (AMD) is the most common cause of blindness in industrialized countries. There has been considerable interest in the genetics of early age-related maculopathy (ARM) and AMD, because they have phenotypes similar to inherited diseases where mutations have been identified, but the heritability of ARM and AMD is unknown.Design A classical twin study was performed to compare the concordance in monozygotic (MZ) and dizygotic (DZ) twins in an unselected sample of female volunteer twins.Participants Five hundred six twin pairs, 226 MZ and 280 DZ, with a mean age of 62 years, were examined.Methods ARM was graded from stereoscopic macular photographs of 501 of the twin pairs (99%) according to the International ARM Epidemiologic Study Group grading system. The casewise concordance was calculated for twin pairs from 2 x 2 contingency tables of affected/unaffected twins, and these tables were used in maximum likelihood genetic modeling to estimate the heritabilities of phenotypes graded.Main outcome measures Prevalence of ARM; concordance in MZ and DZ twins of the phenotypes of ARM, soft drusen >63 microm and > or =125 microm diameter, pigmentary changes and hard drusen (<20 and > or =20 in number); heritability of ARM and subphenotypes.Results The overall prevalence of ARM was 14.6% (95% confidence interval [CI], 12.4%-16.8%). The concordance for ARM in MZ twins was 0.37 compared with 0.19 in DZ twins, suggesting a role for genes. Modeling confirmed a genetic effect for phenotypes of ARM, soft drusen, pigmentary changes, and > or =20 hard drusen, although there was little genetic effect for scattered (<20) hard drusen. The heritability of ARM was estimated as 45% (95% CI, 35%-53%). The most heritable phenotypes were soft drusen > or =125 microm (57%) and > or =20 hard drusen (81%), with the latter being dominantly inherited.Conclusions This study confirms a significant genetic influence in ARM and suggests that future genetic studies should examine phenotypes of large (> or =125 microm) soft drusen and > or =20 hard drusen, because these seem to be the most heritable components.

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  1. Evans, 1996, Blindness and partial sight in England and Wales, Health Trends, 28, 5

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Metadata

Authors
Hammond, C. J., Webster, A. R., Snieder, H., Bird, A. C., Gilbert, C. E., & Spector, T. D.
Affiliations
  • St Thomas' Hospital (GB)
  • Moorfields Eye Hospital (GB)
Corresponding author
Hammond, Christopher J
ORCID
Venue
Ophthalmology
Publisher
Elsevier BV
Published
2002-04
Volume
109
Issue
4
Pages
730-736
ISSN
0161-6420 (ISSN-L)
DOI
10.1016/s0161-6420(01)01049-1
OpenAlex
W64158717
Cited by
237
References
40
Citations by year
2026: 2 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 9 · 2021: 9 · 2020: 6 · 2019: 12 · 2018: 4 · 2017: 7 · 2016: 10 · 2015: 9 · 2014: 15 · 2013: 12 · 2012: 12
FWCI
12.36
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Ophthalmology (publishedVersion)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
  • Wellcome Trust
  • British Heart Foundation
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
age-related maculopathy, age-related macular degeneration, heritability, genetic factors, twin concordance, soft drusen, pigmentary changes, dominant inheritance, prevalence, female twins, macular drusen
MeSH terms
Aged, Diseases in Twins, England, Humans, Macular Degeneration, Middle Aged, Phenotype, Twins, Dizygotic, Twins, Monozygotic, Prevalence

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