April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Common Variants in the Complement Factor H Gene Confer Genetic Susceptibility to Central Serous Chorioretinopathy
Author Affiliations & Notes
  • Akiko Miki
    Kobe university graduate school of medicine, kobe, Japan
  • Naoshi Kondo
    Kobe university graduate school of medicine, kobe, Japan
  • Hiroaki Bessho
    Kobe university graduate school of medicine, kobe, Japan
  • Suiho Yanagisawa
    Kobe university graduate school of medicine, kobe, Japan
  • Shigeru Honda
    Kobe university graduate school of medicine, kobe, Japan
  • Footnotes
    Commercial Relationships Akiko Miki, None; Naoshi Kondo, None; Hiroaki Bessho, None; Suiho Yanagisawa, None; Shigeru Honda, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2212. doi:
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      Akiko Miki, Naoshi Kondo, Hiroaki Bessho, Suiho Yanagisawa, Shigeru Honda; Common Variants in the Complement Factor H Gene Confer Genetic Susceptibility to Central Serous Chorioretinopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2212.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To investigate whether complement factor H gene (CFH) variants are associated with central serous chorioretinopathy (CSCR).

Methods: Five single-nucleotide polymorphisms (SNPs) in CFH (rs3753394, rs800292, rs2284664, rs1329428, and rs106548) were evaluated for association with CSCR in two separate association analyses comparing CSCR subjects with two different control groups. Genotyping was performed using TaqMan technology.

Results: Statistically highly significant associations with CSCR were found for the five SNPs. The strongest association was with rs1329428 (allelic P = 6.44 × 10−6; odds ratio, 1.79; 95%CI, 1.39-2.31), which accounted for 35.5% of the population attributable fraction for CSCR. The second most strongly associated SNP, rs1065489, was highly correlated with the most strongly associated SNP, rs1329428 (r2 = 0.77), and their effects could not be statistically distinguished from each other. A conditional logistic regression analysis revealed that the two highly correlated SNPs, rs1329428 and rs1065489, account for the association signals detected at the CFH locus.

Conclusions: We identified a novel association between CSCR and common CFH polymorphisms. Our findings suggest the involvement of CFH in the pathogenesis of CSCR; exploration of the role of CFH could yield important insights into the biological mechanisms underlying CSCR. Our identification of common CFH variants as susceptibility elements for CSCR will open new avenues for research, leading to a better understanding of CSCR pathogenesis and ultimately to the development of improved therapeutic approaches.

Keywords: 412 age-related macular degeneration • 539 genetics  
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