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Cited by 186Retinal Diseases and TreatmentsComplement system in diseasesOcular Diseases and Behçet’s Syndrome

Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers

Sepp, Tiina, Khan, Jane C., Thurlby, Deborah A., Shahid, Humma, Clayton, David G., Moore, Anthony T., Bird, Alan C., Yates, John R. W.·2006·Investigative Opthalmology & Visual Science
DOI 10.1167/iovs.05-1143
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Abstract

PURPOSE: The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD). The purpose of this study was to confirm this association in a U.K. population, to determine whether the association holds for both geographic atrophy (GA) and choroidal neovascularization (CNV), and to investigate interactions with smoking. METHODS: A case-control study was undertaken in 443 cases of AMD, with 262 spouses as control subjects. All subjects completed a health and lifestyle questionnaire, had an ophthalmic assessment with fundus photography, and were genotyped. RESULTS: The frequencies of the C allele and CC genotype were significantly higher in cases than in controls. In comparison to the TT genotype, the odds ratios for AMD associated with the CT and CC genotypes were 3.1 (CI 2.0-4.6) and 6.3 (CI 3.8-10.4), respectively. The results were similar in subgroup analyses confined to cases with GA or CNV. The findings were also similar for subgroup analyses restricted to subjects who had never smoked, moderate smokers, or heavier smokers (>20 pack years of smoking). Heavier smokers with the CC genotype may be particularly at risk. The frequency of the CC genotype did not differ significantly between cases with and without a family history of AMD. There was no evidence that genotype had any influence on age at onset of disease. CONCLUSIONS: The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population. This association is similar in smokers and nonsmokers. Heavier smokers with the CC genotype may be at particular risk.

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  • Several studies have found an association between advanced age-related macular degeneration and complement factor H.

    “More recently, several studies have found an association between advanced age-related macular degeneration and complement factor H, an integral component of the alternative pathway of complement activation.54–65”

    From Age-related macular degeneration (2008) · cites this paper as [62]

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Authors
Sepp, T., Khan, J. C., Thurlby, D. A., Shahid, H., Clayton, D. G., Moore, A. T., Bird, A. C., & Yates, J. R. W.
Affiliations
  • University of Cambridge (GB)
  • Moorfields Eye Hospital NHS Foundation Trust (GB)
ORCID
Venue
Investigative Opthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Published
2006-02-01
Volume
47
Issue
2
Pages
536
ISSN
  • 0146-0404 (ISSN-L)
  • 1552-5783
DOI
10.1167/iovs.05-1143
OpenAlex
W2112146707
Cited by
186
References
19
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2023: 5 · 2022: 3 · 2021: 6 · 2020: 2 · 2019: 2 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 5 · 2014: 5 · 2013: 9 · 2012: 13
FWCI
26.58
Type
journal article
Language
en
Open access
closed
Locations
  • Investigative Ophthalmology & Visual Science (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
Wellcome Trust
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
complement factor H, CFH Y402H polymorphism, age-related macular degeneration, geographic atrophy, choroidal neovascularization, smoking, genetic susceptibility, gene-environment interaction, family history (medicine), age of onset
MeSH terms
Aged, Aged, 80 and over, Alleles, Atrophy, Female, Gene Frequency, Genotype, Humans, Macular Degeneration, Male, Pigment Epithelium of Eye, Risk Factors, Smoking, Genetic Variation, Case-Control Studies, Polymerase Chain Reaction, Complement Factor H, Choroidal Neovascularization, Photoreceptor Cells, Vertebrate, Polymorphism, Single Nucleotide

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