Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population

Abstract

Background Central serous chorioretinopathy (CSCR) is characterized by serous detachment of the central neurosensory retina and it is one of the most common retinal disorders. Various genetic polymorphisms have been associated with CSCR development. Methods The aim of our study was to investigate the potential association between ARMS2 (rs10490924) and NR3C2 (rs2070951 and rs5522) genes polymorphisms and CSCR development in a well defined Greek cohort for the first time in literature. We enrolled, in our case-control study, 48 CSCR patients and 137 controls. The ARMS2 (rs10490924) and NR3C2 (rs2070951 and rs5522) genes polymorphisms were analyzed using Polymerase Chain Reaction (PCR) assays. Results In our study, we found significant associations between ARMS2rs10490924 and NR3C2rs2070951 single nucleotide polymorphisms and CSCR development. Specifically, the GTrs10490924 genotype frequency of the ARMS2 gene was found to be significantly associated with risk of CSCR and T allele of rs10490924 ARMS2 gene was also found to increase risk for CSCR. The genotype frequency GC and CC of rs2070951 NR3C2 gene were observed more frequently in CSCR patients than controls and C allele of rs2070951 NR3C2 gene was also observed more frequently in CSCR patients than controls. Rs5522 of NR3C2 gene polymorphism was not found to be significantly associated with CSCR. Conclusion Our findings showed, for the first time in a Greek population, that SNPs in the ARMS2 and NR3C2 genes are significantly associated with risk of CSCR. The results of this study support the involvement of extracellular matrix ( ARMS2 gene) and mineralocorticoid receptor (MR) in the pathogenesis of CSCR.