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

The DOI matches its Crossref record; 148 of the 155 references it cites were found in a registry or an index.

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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Crossref · 10.1016/j.survophthal.2006.05.001

Cites

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Citations

Cites

Research works printed but not linked: 3

  1. National Advisory Eye Council 2001: Vision Research—A National Plan: 1999–2003, Vol. 1. A Report of the National Advisory Eye Council. National Institutes of Health, Bethesda, MD (NIH Publ. No. 98-4120)
  2. Seddon, 1994, Dietary fat intake and age-related macular degeneration, Invest Ophthalmol Vis Sci, 25, 2003
  3. Seddon, 1996, No association between apolipoprotein E and advanced age-related macular degeneration, Am J Hum Gen, 59, 388

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Metadata

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
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
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
  • Health Sciences › Medicine › Ophthalmology › 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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