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

Abstract

KEYWORDS 2 central serous chorioretinopathy; complement Factor H ; single-nucleotide polymorphism pachychoroid spectrum disease; meta-analysis Abstract Background: To analyze the association between central serous chorioretinopathy (CSCR) and singlenucleotide 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.

Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population

“…Indeed, some of them may offer protection. For example, rs1065489 was found to protect against CSCR in Japanese, Chinese, as well as West European populations [7,9,16], while it was found as a predisposing association among Greek patients [8]. The rs800292 has been shown to be a risk factor for CSCR in the Chinese population, however, it was not associated with CSCR in Greek patients [8,16].…”

“…Third, the rs3753394 is located upstream of the CFH gene and its polymorphisms may theoretically affect the downstream gene's product. Although it is proposed that SNPs may affect the regulatory functions of CFH gene products, it has not been proved whether this influence is exerted through qualitative or quantitative changes [16]. Fourth, the CFH gene has been shown to be associated with age-related macular degeneration (AMD), another retinal disease that shares many common features with CSCR [9,[17][18][19][20].…”

“…Other investigators also reported CSCR-associated SNPs in the European population, including rs800292, rs1329428, and rs1065489 [7]. In the largest-scale study of this kind, six CSCR-associated SNPs have been evaluated in the Chinese population comprising the following polymorphisms: rs800292, rs1061170, rs3753396, rs2284664, rs1329428, and rs1065489 [16].…”

“…For example, Linglu and colleagues reported no association of rs1329428 and rs2284664 with CSCR in their Chinese population. Nevertheless, their meta-analysis demonstrated that these two SNPs are associated with CSCR [16]. Furthermore, looking for associations in the CFH gene locus is due to the current recognition of this area as a possible candidate for CSCR development.…”