First Department of Ophthalmology, Gennimatas General Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
Department of Basic Medical Sciences, Laboratory of Biology, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
Eur J Ophthalmol. 2023 Sep;33(5):1860-1866. doi: 10.1177/11206721231155043. Epub 2023 Feb 3.
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.
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.
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.
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.
中心性浆液性脉络膜视网膜病变（CSCR）的特征是神经感觉视网膜中央浆液性脱离，是最常见的视网膜疾病之一。各种遗传多态性与 CSCR 的发展有关。
我们的研究旨在首次在文献中研究 （rs10490924）和 （rs2070951 和 rs5522）基因多态性与希腊队列中 CSCR 发病之间的潜在关联。在我们的病例对照研究中，我们招募了 48 名 CSCR 患者和 137 名对照。使用聚合酶链反应（PCR）检测 （rs10490924）和 （rs2070951 和 rs5522）基因多态性。
在我们的研究中，我们发现 rs10490924 和 rs2070951 单核苷酸多态性与 CSCR 发病之间存在显著关联。具体而言， 基因的 GTrs10490924 基因型频率与 CSCR 的发病风险显著相关，rs10490924 基因的 T 等位基因也被发现增加了 CSCR 的发病风险。rs2070951 基因的 GC 和 CC 基因型频率在 CSCR 患者中比对照组更频繁观察到，rs2070951 基因的 C 等位基因在 CSCR 患者中也比对照组更频繁观察到。 基因的 rs5522 多态性与 CSCR 无显著相关性。
我们的研究结果首次在希腊人群中表明， 基因和 基因中的 SNPs 与 CSCR 的发病风险显著相关。这项研究的结果支持细胞外基质（ 基因）和盐皮质激素受体（MR）参与 CSCR 的发病机制。
