Association of Central Serous Chorioretinopathy with single-nucleotide polymorphisms in Complement Factor H Gene in a Chinese population

Background: To analyze the association between central serous chorioretinopathy (CSCR) and single-nucleotide polymorphisms in the complement factor H (CFH) gene in patients of Chinese descent. Methods: 437 CSCR patients and 510 controls were enrolled from the Department of Ophthalmology, People's Hospital of Peking University. We genotyped each patient for six single-nucleotide polymorphism (SNP) markers in CFH (rs800292, rs1061170, rs3753396, rs2284664, rs1329428, and rs1065489), and assessed each SNP's associations with CSCR. We also performed a meta-analysis of CFH SNPs associations with CSCR. Results: In our Chinese population sample, two CFH SNPs—rs800292 and rs1065489—were significantly associated with CSCR. We found that rs800292 had the strongest association, and rs1065489 had the second strongest association. From a meta-analysis of all existing case-control studies on CFH SNPs and CSCR, we also found significant associations between CFH SNPs rs1329428, rs1065489, rs2284664, and rs800292, and CSCR. Conclusions: Our results show a significant association between CSCR and two SNPs in the CFH gene, rs800292 and rs1065489, in a Chinese population. These findings suggest a role for CFH in CSCR pathogenesis. Further investigation into how CFH contributes to CSCR will improve our understanding of CSCR, and of CFH as a potential therapeutic target.