title: Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy.
abstract: OBJECTIVE
  To investigate whether complement factor H (CFH) gene DNA variants are associated with central serous chorioretinopathy (CSCR).
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  A case-control group of 140 CSCR subjects and 2 different control groups: 934 population-based controls and 335 hospital-based controls.
  
  
  METHODS
  Five single-nucleotide polymorphisms (SNPs) in CFH (rs3753394, rs800292, rs2284664, rs1329428, and rs106548) were evaluated for association with CSCR in 2 separate association analyses comparing CSCR subjects with 2 different control groups. Genotyping was performed using TaqMan technology (Applied Biosystems, Foster City, CA).
  
  
  METHODS
  Allele and haplotype frequencies of the 5 variants in the CFH region.
  
  
  RESULTS
  Highly statistically significant associations with CSCR were found for the 5 SNPs. The strongest association was observed with rs1329428 (allelic P = 6.44×10(-6); odds ratio, 1.79; 95% confidence interval [CI], 1.39-2.31, cases vs. population-based controls), which accounted for 35.5% of the population-attributable fraction for CSCR. Consistent with the analysis, rs1329428 showed the strongest disease association (allelic P = 1.00×10(-5); odds ratio, 1.89; 95% CI, 1.42-2.50) in comparing cases with hospital-based controls. The second most strongly associated SNP, rs1065489, was correlated highly with the most strongly associated SNP, rs1329428 (r(2) = 0.77), and their effects could not be distinguished statistically from each other. A conditional logistic regression analysis revealed that the 2 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 support 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.
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Miki
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan; Medical Corporation Ryokuwakai Kondo Ophthalmic Clinic, Akashi, Japan. Electronic address: nskondo@gmail.com.
authors.forename: Naoshi
authors.initials: N
authors.lastname: Kondo
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Suiho
authors.initials: S
authors.lastname: Yanagisawa
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Bessho
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Honda
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Negi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D056833:Central Serous Chorioretinopathy / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H