Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy.

Ophthalmology
Akiko MikiAkira Negi

Abstract

To investigate whether complement factor H (CFH) gene DNA variants are associated with central serous chorioretinopathy (CSCR). Cross-sectional study. A case-control group of 140 CSCR subjects and 2 different control groups: 934 population-based controls and 335 hospital-based controls. 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). Allele and haplotype frequencies of the 5 variants in the CFH region. 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 assoc...Continue Reading

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