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Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy

Naoshi Kondo1, Shigeru Honda, Shin-ichi Kuno

  • 1Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.

Ophthalmology
|February 4, 2009
PubMed

Insights

Genetic variants in the complement factor H (CFH) gene are strongly associated with polypoidal choroidal vasculopathy (PCV). The I62V variant in CFH appears to be a key factor in PCV development.

Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • Polypoidal choroidal vasculopathy (PCV) is a common subtype of age-related macular degeneration.
  • The complement system, particularly complement factor H (CFH), is implicated in the pathogenesis of various ocular diseases.

Purpose of the Study:

  • To investigate the association between variants in the complement factor H (CFH) gene and the risk of developing polypoidal choroidal vasculopathy (PCV).

Main Methods:

  • A case-control study was conducted with 130 PCV patients and 173 unrelated controls from a Japanese population.
  • Genotyping of 12 tag single nucleotide polymorphisms (SNPs) in the CFH gene, including rs800292 (I62V) and rs1061170 (Y402H), was performed using TaqMan technology.
  • Association analyses of allele and haplotype frequencies were conducted.

Main Results:

  • A significant association between the CFH gene region and PCV was observed.
  • The strongest association was found at the rs800292 (I62V) variant (P = 1.7 x 10(-7)).
  • Conditional analyses indicated that the I62V variant fully accounts for the observed association signals across the examined CFH SNPs due to linkage disequilibrium.

Conclusions:

  • The complement pathway plays a significant role in the pathogenesis of PCV.
  • The nonsynonymous CFH variant I62V is a strong candidate for a causal polymorphism contributing to PCV development.
Abstract

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