The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date

Haddad, Stephen; Chen, Clara A.; Santangelo, Susan L.; Seddon, Johanna M.

doi:10.1016/j.survophthal.2006.05.001

Cited by 299Retinal Diseases and TreatmentsGenetic Associations and EpidemiologyRetinal Development and Disorders

The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date

Haddad, Stephen, Chen, Clara A., Santangelo, Susan L., Seddon, Johanna M.·2006·Survey of Ophthalmology

DOI 10.1016/j.survophthal.2006.05.001

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Abstract

Age-related macular degeneration (AMD) is the leading cause of vision loss and blindness among older adults in the USA and throughout the developed world. Etiological research suggests that AMD is a complex disease, caused by the actions and interactions of multiple genes and environmental factors. Familial aggregation studies, twin studies, and segregation analyses have provided strong evidence for the heritability of AMD, and linkage and association studies have been conducted to localize the disease-causing genes. Whole genome linkage scans have implicated nearly every chromosome in the human genome, with the most replicated signals residing on 1q25-31 and 10q26. Association studies have identified a major risk variant within the complement factor H gene (CFH), and recent reports suggest that PLEKHA1/LOC387715 and the BF/C2 regions may be major risk loci for AMD as well. Several other genes have had at least one positive association finding and deserve further exploration. Among these, apolipoprotein E (APOE) may be a minor risk locus. Additional genes will likely be identified, and future studies should explore the potential interactions of these genes with other genes as well as environmental factors.

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No evidence was found for other reported candidate gene associations with AMD, including TLR3, SERPING1, LRP6, PEDF, VEGF, TLR4, CX3CR1, ELOVL4, PON1, and SOD2.
“We did not find evidence for other reported candidate gene associations with AMD ([22](#r22)), including *TLR3, SERPING1, LRP6, PEDF, VEGF, TLR4, CX3CR1, ELOVL4, PON1*, and *SOD2*”
From Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene ( LIPC ) (2010) · cites this paper as [22]
Increasing evidence suggests that there are genetic factors involved in age-related macular degeneration.
“Increasing evidence suggests that there are genetic factors involved in age-related macular degeneration.44,45”
From Age-related macular degeneration (2008) · cites this paper as [44]

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Linkage analysis for age-related macular degeneration supports a gene on chromosome 10Q26
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The Apolipoprotein E ε4 Allele Is Unlikely to Be a Major Risk Factor of Age-Related Macular Degeneration in Chinese
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Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12
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MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration
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Evaluation of the ARMD1 locus on 1q25–31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1
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Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
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Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis
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Recent developments in age-related macular degeneration: a review
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Authors: Haddad, S., Chen, C. A., Santangelo, S. L., & Seddon, J. M.
Affiliations: Massachusetts General Hospital (US)
Massachusetts Eye and Ear Infirmary (US)
Harvard University (US)
Corresponding author: Seddon, Johanna M.
ORCID: Chen, Clara A.
Santangelo, Susan L.
Seddon, Johanna M.
Venue: Survey of Ophthalmology
Publisher: Elsevier BV
Published: 2006-07
Volume: 51
Issue: 4
Pages: 316-363
ISSN: 0039-6257 (ISSN-L)
DOI: 10.1016/j.survophthal.2006.05.001
OpenAlex: W2082887801
Semantic Scholar: 05d1c272f3535571f3413b29916695e54ed636b6
Cited by: 299
References: 155
Citations by year: 2026: 3 · 2025: 2 · 2024: 2 · 2023: 5 · 2022: 4 · 2021: 10 · 2020: 6 · 2019: 6 · 2018: 9 · 2017: 17 · 2016: 12 · 2015: 16 · 2014: 15 · 2013: 16 · 2012: 19
FWCI: 6.82
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Survey of Ophthalmology (publishedVersion)
PubMed (publishedVersion)
Funders: National Eye Institute (R01EY011309)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Keywords: age-related macular degeneration, genetic susceptibility, heritability, genetic linkage, genetic association, complement factor H, apolipoprotein E, gene-environment interaction, vision loss
MeSH terms: Humans, Macular Degeneration, Risk Factors, Disease Progression, Genetic Predisposition to Disease

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The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date

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