孔源性视网膜脱离中的BAX和BCL2基因多态性
BAX and BCL2 Gene Polymorphisms in Rhegmatogenous Retinal Detachment.
作者信息
Moschos Marilita M, Chatziralli Irini, Brouzas Dimitrios, Gazouli Maria
机构信息
Electrophysiology Laboratory, 1st Department of Ophthalmology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
出版信息
Ophthalmic Res. 2017;58(4):227-230. doi: 10.1159/000479700. Epub 2017 Sep 7.
PURPOSE
The purpose of this study was to investigate the potential association between rhegmatogenous retinal detachment (RRD) and BAX and BCL2 polymorphisms.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
目的
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。
方法
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。
结果
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。
结论
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。
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