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Genetic influence on early age-related maculopathy
Open accessAbstract
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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“Significant genetic influence in early AMD has been demonstrated in a classical twin study comparing concordance of 226 monozygotic and 280 dizygotic twin pairs, with soft drusen and multiple hard drusen showing strong genetic influences with heritability of 57% and 81%, respectively [36].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [36]
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MethodCFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
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InfluentialThe Heritability of Ocular Traits
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“Genetic susceptibility plays a role in ARM etiology with heritability estimates 45% (2).”
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“Each of these processes has been implicated in the pathogenesis of AMD.”
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“Disease/Traits Heritability value Source AMD 0.7 [207] AMD 0.75 [208] AMD 0.71 [209] AMD 0.46-0.71 [210] AMD 0.45 [211] AMD (small hard drusen) 0.63 [212] CCT 0.95 [213] CCT 0.72 [214] CDR 0.48 [215] CDR 0.66 [214] Corneal astigmatism 0.6 [216] Corneal curvature 0.71 [216] Cortical cataract 0.24…”
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HTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH
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Self-citationAssociation of HLA Class I and Class II Polymorphisms with Age-Related Macular Degeneration
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“In addition, family- and population-based studies have also highlighted that AMD carries a significant genetic burden, demonstrating >45 % concordance found in monozygotic and dizygotic twins as well as a recurrence-risk ratio between three to six times greater in siblings than in the general population [41–46].”
BackgroundAnalysis of the Y402H Variant of the Complement Factor H Gene in Age-Related Macular Degeneration
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Progress in defining the molecular biology of age related macular degeneration
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“These studies consistently show a greater than 90% concordance among monozygotic twins (Gottfredsdottir et al. 1999; Hammond et al. 2002; Klein et al. 1994; Meyers et al. 1995; Seddon et al. 2005) and a heritability score of 45% was demonstrated in one study focusing on ARM.”
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“…of AMD (De Jong et al., 1997; Seddon et al., 1997; Klaver et al., 1998) was supported by studies of monozygotic twins with significantly increased concordance rate compared to dizygotic twins (Dosso and Bovet, 1992; Klein et al., 1994; Meyers, 1994; Hammond et al., 2002; Grizzard et al., 2003).”
Age-related macular degeneration: a perspective on genetic studies
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Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy
Sauer, L., Andersen, K. M., Dysli, C., Zinkernagel, M. S., Bernstein, P. S., & Hammer, M. (2018) · Journal of Biomedical Optics · doi:10.1117/1.jbo.23.9.091415 · Cited by 61
A Genetic Contribution to Intraocular Pressure: The Beaver Dam Eye Study
Duggal, P., Klein, A. P., Lee, K. E., Iyengar, S. K., Klein, R., Wilson, J., & Klein, B. E. K. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-0729 · Cited by 61
Schmidt, S., Scott, W. K., Postel, E. A., Agarwal, A., Hauser, E. R., De La Paz, M. A., Gilbert, J. R., Weeks, D. E., Gorin, M. B., Haines, J. L., et al. (2004) · BMC Genetics · doi:10.1186/1471-2156-5-18 · Cited by 60
“A contribution of genetic susceptibility is supported by epidemiologic [5-7] and twin studies [8,9], as well as segregation analyses [10].”
ResultDifferent Therapeutic Approaches for Dry and Wet AMD
Marchesi, N., Capierri, M., Pascale, A., & Barbieri, A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252313053 · Cited by 66
“Several studies show the contribution of genetic factors in AMD development [15–18].”
Goto, A., Akahori, M., Okamoto, H., MINAMI, M., Terauchi, N., Haruhata, Y., Obazawa, M., Noda, T., Honda, M., Mizota, A., et al. (2009) · Journal of ocular biology, diseases, and informatics · doi:10.1007/s12177-009-9047-1 · Cited by 61
“A concordance for AMD phenotypes in twins, and a higher risk of siblings of individuals with AMD have been reported [9–14].”
BackgroundScholl, H. P. N., Pető, T., Dandekar, S. S., Bunce, C., Xing, W., Jenkins, S. A., & Bird, A. C. (2003) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-002-0602-8 · Cited by 57
“A recent study comparing the concordance of monozygotic and dizygotic twin pairs confirmed a significant genetic influence in ARM [5].”
BackgroundResultSelf-citationDisease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., & Wright, A. F. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl091 · Cited by 57
“Genetic factors are implicated in AMD on the basis of twin, family and association studies but it appears to be a genetically complex disorder (6).”
BackgroundMunch, I. C., Linneberg, A. R., & Larsen, M. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10785 · Cited by 57
“In conclusion, precursors for AMD were associated with modifiable obesity-related risk factors, notably associations of lower physical activity with macular drusen > 63 lm and lower serum HDL, and moderately elevated serum triglycerides with 20 or more small, hard macular drusen per eye—a trait that has previously bee…”
BackgroundResultGenomic aspects of age-related macular degeneration
Horie‐Inoue, K., & Inoue, S. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.013 · Cited by 54
Age-Related Macular Degeneration Preferred Practice Pattern®
Vemulakonda, G. A., Bailey, S. T., Kim, S. J., Kovach, J. L., Lim, J. I., Ying, G., & Flaxel, C. J. (2025) · Ophthalmology · doi:10.1016/j.ophtha.2024.12.018 · Cited by 56
The eye as a model of ageing in translational research – Molecular, epigenetic and clinical aspects
Pathai, S., Shiels, P. G., Lawn, S. D., Cook, C., & Gilbert, C. E. (2012) · Ageing Research Reviews · doi:10.1016/j.arr.2012.11.002 · Cited by 50
Self-citationOlder men's experiences of living with severe visual impairment
Moore, L. W., & Miller, M. (2003) · Journal of Advanced Nursing · doi:10.1046/j.1365-2648.2003.02668.x · Cited by 49
Risk Factors for Age-Related Maculopathy
Connell, P., Keane, P. A., O’Neill, E. C., Al‐Taie, R., Loane, E., Neelam, K., Nolan, J. M., & Beatty, S. (2009) · Journal of Ophthalmology · doi:10.1155/2009/360764 · Cited by 49
“6% in their study group, with concordance rates of 37% and 19% for monozygotic and dizygotic twin pairs, respectively [13].”
BackgroundTwin study of age-related macular degeneration
Grizzard, W. S., Arnett, D. K., & Haag, S. L. (2003) · Ophthalmic Epidemiology · doi:10.1076/opep.10.5.315.17317 · Cited by 48
Naj, A. C., Scott, W. K., Courtenay, M. D., Cade, W. H., Schwartz, S. G., Kovach, J. L., Agarwal, A., Wang, G., Haines, J. L., & Pericak‐Vance, M. A. (2013) · Annals of Human Genetics · doi:10.1111/ahg.12011 · Cited by 47
“While genetic studies like those mentioned here have clearly implicated roles for genes in the complement pathway and chronic inflammation, much of AMD’s genetic contribution, with heritability (h2) estimated to be between 45% and 71% (Hammond et al., 2002; Seddon et al., 2005), remains unknown and recent work has ind…”
BackgroundChu, J., Zhou, C., Lü, N., Zhang, X., & Dong, F.-T. (2008) · Chinese Medical Journal · doi:10.1097/00029330-200812020-00011 · Cited by 46
Fisher, S. A., Rivera, A., Fritsche, L. G., Babadjanova, G., Petrov, S., & Weber, B. H. F. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.105577 · Cited by 46
Unraveling A Complex Genetic Disease: Age-related Macular Degeneration
Chamberlain, M., Baird, P. N., Dirani, M., & Guymer, R. H. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.08.003 · Cited by 42
Genetic and Environmental Underpinnings to Age-Related Ocular Diseases
Seddon, J. M. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13234 · Cited by 41
“Similar results were seen in a survey of female twins.(11)”
ResultTyping of ARMS2 and CFH in Age-Related Macular Degeneration
Ricci, F. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2009.237 · Cited by 39
Munch, I. C., Ek, J., Kessel, L., Sander, B., Almind, G. J., Brøndum‐Nielsen, K., Linneberg, A. R., & Larsen, M. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4482 · Cited by 43
Richter‐Mueksch, S., Stur, M., Stifter, E., & Radner, W. (2005) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-005-0063-y · Cited by 39
“Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the Western world in individuals over 60 years old [11, 13, 14, 17].”
BackgroundMolecular Genetic Mechanisms in Age-Related Macular Degeneration
Shughoury, A., Sevgi, D. D., & Ciulla, T. A. (2022) · Genes · doi:10.3390/genes13071233 · Cited by 42
Graßmann, F., Fauser, S., & Weber, B. H. F. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2015.04.039 · Cited by 38
Fisher, S. A., Rivera, A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., Rudolph, G., & Weber, B. H. F. (2007) · Human Mutation · doi:10.1002/humu.20464 · Cited by 39
“Twin studies have shown increased concordance in monozygotic (MZ) twins compared with dizygotic (DZ) twins for both early-stage AMD [Hammond et al., 2002] and advanced disease [Seddon et al., 2005].”
BackgroundHeredity of Small Hard Drusen in Twins Aged 20–46 Years
Munch, I. C., Sander, B., Kessel, L., Hougaard, J. L., Taarnhøj, N. C. B. B., Sørensen, T. I. A., Kyvik, K. O., & Larsen, M. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0529 · Cited by 36
“A heritability of 81% of the phenotype 20 hard drusen per eye has previously been found in 506 female twin pairs (age range, 49–79 years).(6) In the present study, we examined the prevalence, systemic associations, concordance, and heritability of small hard drusen through the use of red-free fundus photography in twi…”
BackgroundThe Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review
Bailey, J. N. C., Hoffman, J., Sardell, R. J., Scott, W. K., Pericak‐Vance, M. A., & Haines, J. L. (2016) · Journal of Clinical Medicine · doi:10.3390/jcm5030031 · Cited by 36
“dizygotic twin concordance [12–16] and family studies reporting increased risk of 2–3 fold among first-degree relatives of patients [14,17,18].”
BackgroundAge‐Related Macular Degeneration: A Practical Approach to a Challenging Disease
Bourla, D. H., & Young, T. A. (2006) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2006.00771.x · Cited by 37
“Recognized risk factors are age, white race, and heredity.(10,11) There is a mild association between hypertension and AMD and a mild to moderate association between AMD and the clinical manifestations of cardiovascular disease.”
BackgroundPDGF-C and PDGF-D in ocular diseases
Kumar, A., & Li, X. (2017) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2017.10.002 · Cited by 34
“However, age is themost prominent risk factor associatedwith AMD, followed by genetic and environmental factors and lifestyle (Fritsche et al., 2014; Hammond et al., 2002; Rudnicka et al., 2015; Sobrin and Seddon, 2014).”
BackgroundThe role of omega-3 and micronutrients in age-related macular degeneration
Querques, G., & Souied, E. H. (2014) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2014.01.001 · Cited by 31
Genetic Factors Associated with Age-Related Macular Degeneration
Leveziel, N., Tilleul, J., Puche, N., Zerbib, J., Lalloum, F., Querques, G., & Souied, E. H. (2011) · Ophthalmologica · doi:10.1159/000328981 · Cited by 33
Age-related macular degeneration
de Jong, E. K., Geerlings, M. J., & den Hollander, A. I. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-816222-4.00010-1 · Cited by 32
Mann, S. S., Rutishauser-Arnold, Y., Pető, T., Jenkins, S. A., Leung, I., Xing, W., Bird, A. C., Bunce, C., & Webster, A. R. (2010) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-010-1483-x · Cited by 32
“[21] who demonstrated a high heritability for the presence of soft drusen and >=20 hard drusen at the macula, comparing concordance in monozygotic and dizygotic twins.”
BackgroundSelf-citationCheng, Y., Huang, L., Li, X., Zhou, P., Zeng, W., & Zhang, C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053665 · Cited by 31
“A concordance for AMD phenotypes in twins, and a higher risk of siblings of individuals with AMD have been reported [13,14,15,16,17,18].”
BackgroundSauer, L., Komanski, C. B., Vitale, A. S., Hansen, E. D., & Bernstein, P. S. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.19-26835 · Cited by 28
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)
- 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
- 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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