Purpose: The purpose of our study was to investigate the potential association between the complement factor H (CFH) (rs3753394, rs800292, rs2284664, rs1329428, and rs1065489) and GSTM1 gene polymorphisms, and central serous chorioretinopathy (CSCR) susceptibility in a well-defined Greek cohort.
Methods: We enrolled a case-control study in a Greek population with 41 cases and 78 controls. Five milliliters of peripheral blood was collected from each participant, and DNA was extracted using the PureLink Genomic DNA kit. The CFH (rs3753394, rs800292, rs2284664, rs1329428, and rs1065489) single nucleotide polymorphisms and GSTM1 polymorphism were tested using polymerase chain reaction assays.
Results: Between CSCR (n = 41) cases and controls (n = 78), the TT rs3753394, GG rs1329428, and TT rs1065489 genotypes' frequencies of the CFH gene were found to be significantly associated with risk of CSCR. The genotype frequency of the CFH rs2284664, rs800292, and of the GSTM1 gene polymorphisms was not found to be significantly associated with CSCR.
Conclusion: Our results demonstrated a significant association between CSCR and single nucleotide polymorphisms in the CFH gene (rs3753394, rs1329428, and rs1065489), suggesting that disturbances in choroidal vasculature, through intercorrelation with adrenomedullin, play a significant role in CSCR pathogenesis.