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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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Pathobiology of the Outer Retina: Genetic and Nongenetic Causes of Disease
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Colour contrast sensitivity in eyes at high risk of neovascular age-related macular degeneration
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“1490 European Journal of Ophthalmology 30(6)”
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“An estimate of the heritability of early age-related Maculopathy is 45% [Hammond et al., 2002], which places heritability for a major locus in the range of 0.”
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Age-related Macular Disease: How to assess the retina using scanning laser techniques?
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“Small hard drusen are a common fundus feature (Hammond et al. 2002; Munch et al. 2007) that is associated, when found in large numbers, with an increased risk of incident age-related macular degeneration (AMD) (van Leeuwen et al.”
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“Die Heritabilität der AMD wurde mit 45% angenommen, wobei die höchste Vererbbarkeit mit großen weichen Drusen oder mit dem Auftreten von mindestens 20 harten Drusen korrelierte [2].”
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“Previous twin studies on AMD have shown a varying degree of disease concordance in MZ twins, ranging from 22% to 100% on colour fundus photography (CFP) based AMD grading (Gottfredsdottir et al., 1999; Hammond et al., 2002; Meyers, 1994; Seddon et al., 2005).”
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“, 1998b), as well as the higher incidence in monozygotic twins (Meyers et al., 1995; Hammond et al., 2002).”
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Genetics of age-related macular degeneration
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Understanding the Role of Novel Gene-Environmental and Gene-Gene Interactions in the Pathogenesis of Age Related Macular Degeneration
Ayala-Haedo, J. (2010)

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: Hammond, Christopher J
Webster, Andrew R
Snieder, Harold
Bird, Alan C
Gilbert, Clare E
Spector, Tim D
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: bronze
doi.org
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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Genetic influence on early age-related maculopathy

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