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

Tiina Sepp1, Jane C Khan, Deborah A Thurlby

  • 1Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.

Investigative Ophthalmology & Visual Science
|January 25, 2006
PubMed

Insights

The complement factor H (CFH) Y402H gene variant is linked to age-related macular degeneration (AMD) in the UK. This genetic risk factor affects both geographic atrophy and choroidal neovascularization, with smoking potentially increasing risk in carriers.

Area of Science:

  • Ophthalmology
  • Genetics
  • Epidemiology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • The complement factor H (CFH) gene Y402H polymorphism (1277T-->C) is a known risk factor for AMD.
  • Understanding genetic predispositions and environmental interactions is crucial for AMD management.

Purpose of the Study:

  • To confirm the association between the CFH Y402H polymorphism and AMD in a United Kingdom population.
  • To investigate if this association differs between geographic atrophy (GA) and choroidal neovascularization (CNV) subtypes of AMD.
  • To explore potential interactions between the CFH Y402H polymorphism and smoking status in AMD development.

Main Methods:

  • A case-control study involving 443 AMD cases and 262 control subjects (spouses).
  • Data collection included health and lifestyle questionnaires, ophthalmic assessments with fundus photography, and genotyping.
  • Statistical analyses were performed to compare allele and genotype frequencies and calculate odds ratios.

Main Results:

  • The C allele and CC genotype of the CFH Y402H polymorphism were significantly more frequent in AMD cases than controls.
  • Odds ratios for AMD were 3.1 (CT genotype) and 6.3 (CC genotype) compared to the TT genotype.
  • The association was consistent across GA and CNV subtypes and in smokers and non-smokers, though heavier smokers with the CC genotype showed increased risk.

Conclusions:

  • The CFH Y402H gene variant is strongly associated with both geographic atrophy and choroidal neovascularization in the UK population.
  • This genetic association with AMD is present in both smokers and non-smokers.
  • Individuals with the CC genotype who are heavier smokers may face a particularly elevated risk of developing AMD.
Abstract

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