Variation in complement factor 3 is associated with risk of age-related macular degeneration
Abstract
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.
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Genes in the complement pathway and a region of chromosome 10 have been implicated as the major genetic contributors to AMD.
“Genes in the complement pathway4–11 and a region of chromosome 10 12,13 have now been implicated as the major genetic contributors to disease.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [11]
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- Authors
- Maller, J. B., Fagerness, J. A., Reynolds, R. C., Neale, B. M., Daly, M. J., & Seddon, J. M.
- Affiliations
- Massachusetts General Hospital (US)
- Broad Institute (US)
- Tufts Medical Center (US)
- Corresponding author
- Daly, Mark J
- Seddon, Johanna M
- Venue
- Nature Genetics
- Published
- 2007-09-02
- Volume
- 39
- Issue
- 10
- Pages
- 1200-1201
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1990057691
- Cited by
- 437
- References
- 13
- Citations by year
- 2026: 10 · 2025: 7 · 2024: 7 · 2023: 4 · 2022: 14 · 2021: 18 · 2020: 15 · 2019: 16 · 2018: 12 · 2017: 12 · 2016: 19 · 2015: 24 · 2014: 38 · 2013: 42 · 2012: 45
- FWCI
- 35.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Broad Institute
- National Institutes of Health (6u54rr020278-06)
- National Institute on Aging
- National Eye Institute (N01-EY-0-2127, EY11309, R01EY011309)
- National Center for Research Resources (U54-RR020278)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Keywords
- age-related macular degeneration, genetic susceptibility, non-synonymous mutations, complement system, genetic association, case-control study
- MeSH terms
- Complement C3, Humans, Macular Degeneration, Risk Factors, Genetic Variation, Case-Control Studies
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