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

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 (rs10490924) and (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 (rs10490924) and (rs2070951 and rs5522) genes polymorphisms were analyzed using Polymerase Chain Reaction (PCR) assays.

RESULTS

In our study, we found significant associations between rs10490924 and rs2070951 single nucleotide polymorphisms and CSCR development. Specifically, the GTrs10490924 genotype frequency of the gene was found to be significantly associated with risk of CSCR and T allele of rs10490924 gene was also found to increase risk for CSCR. The genotype frequency GC and CC of rs2070951 gene were observed more frequently in CSCR patients than controls and C allele of rs2070951 gene was also observed more frequently in CSCR patients than controls. Rs5522 of 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 and genes are significantly associated with risk of CSCR. The results of this study support the involvement of extracellular matrix ( gene) and mineralocorticoid receptor (MR) in the pathogenesis of CSCR.