Moschos Marilita M, Chatziralli Irini, Brouzas Dimitrios, Gazouli Maria
Electrophysiology Laboratory, 1st Department of Ophthalmology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Ophthalmic Res. 2017;58(4):227-230. doi: 10.1159/000479700. Epub 2017 Sep 7.
The purpose of this study was to investigate the potential association between rhegmatogenous retinal detachment (RRD) and BAX and BCL2 polymorphisms.
This is a case control study of 99 patients with RRD and 120 healthy control subjects of Greek origin, surveyed for BAX and BCL2 polymorphisms (rs2279115 and rs4645878) and a potential correlation to RRD.
The rs4645878 AA genotype was found to be significantly associated with RRD (p = 0.003; OR: 6.89, 95% CI: 1.76-26.93), while the rs2279115 CC genotype as well as the C allele was not found in patients with RRD.
This is the first study evaluating the potential relationship between BCL2 and BAX gene polymorphisms and RRD in a Greek population, showing a significant association between BAX rs4645878 polymorphism and RRD susceptibility. This finding suggests that an apoptotic mechanism is implicated in the pathogenesis of RRD.
本研究旨在探讨孔源性视网膜脱离（RRD）与BAX和BCL2基因多态性之间的潜在关联。
这是一项病例对照研究，对99例RRD患者和120名希腊裔健康对照者进行调查，检测BAX和BCL2基因多态性（rs2279115和rs4645878）以及与RRD的潜在相关性。
发现rs4645878 AA基因型与RRD显著相关（p = 0.003；OR：6.89，95% CI：1.76 - 26.93），而RRD患者中未发现rs2279115 CC基因型以及C等位基因。
这是第一项评估希腊人群中BCL2和BAX基因多态性与RRD潜在关系的研究，显示BAX rs4645878多态性与RRD易感性之间存在显著关联。这一发现表明凋亡机制与RRD的发病机制有关。
