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
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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In the citing paper
“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]
In the citing paper
“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]
Citations
Cites
Ranibizumab for Neovascular Age-Related Macular Degeneration
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Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492
Prevalence of Age-Related Macular Degeneration in the United States
The Eye Diseases Prevalence Research Group* (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.4.564 · Cited by 2,783
Complement factor H polymorphism and age-related macular degeneration
Edwards, A. O., Ritter, R., Abel, K. J., Manning, A., Panhuysen, C., & Farrer, L. A. (2005) · Science · doi:10.1126/science.1110189 · Cited by 2,449
Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424
Pegaptanib for neovascular age-related macular degeneration
Gragoudas, E. S., Adamis, A. P., Cunningham, E. T., Feinsod, M., & Guyer, D. R. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa042760 · Cited by 2,337
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Research works printed but not linked: 3
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Cited by
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Wong, W. L., Su, X., Li, X., Cheung, C. M. G., Klein, R., Cheng, C., & Wong, T. Y. (2014) · The Lancet Global Health · doi:10.1016/s2214-109x(13)70145-1 · Cited by 5,545
HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
DeWan, A., Liu, M., Hartman, S., Zhang, S. S.-M., Liu, D. T. L., Zhao, C., Tam, P. O. S., Chan, W. M., Lam, D. S. C., Snyder, M., et al. (2006) · Science · doi:10.1126/science.1133807 · Cited by 876
Complement C3 variant and the risk of age-related macular degeneration
Yates, J. R. W., Sepp, T., Matharu, B. K., Khan, J. C., Thurlby, D. A., Shahid, H., Clayton, D. G., Hayward, C., Morgan, J., Wright, A. F., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072618 · Cited by 829
Age-related macular degeneration
de Jong, P. T. V. M. (2006) · New England Journal of Medicine · doi:10.1056/nejmra062326 · Cited by 787
Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics · doi:10.1038/ng1873 · Cited by 599
Self-citation
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.
- Venue
- Survey of Ophthalmology
- Publisher
- Elsevier BV
- Published
- 2006-07
- Volume
- 51
- Issue
- 4
- Pages
- 316-363
- ISSN
- 0039-6257 (ISSN-L)
- 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
- 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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