Background

Normal-tension glaucoma (NTG) that occurs despite normal intraocular pressure has genetic predisposition. Since retinal ganglion cells (RGCs) are a key node in pathogenesis of glaucoma, neurodegeneration of RGCs is thought to be the main cause increasing the risk of NTG development. Here, we aimed to investigate the association of polymorphisms in RGC development genes with NTG development.

Materials and Methods

We performed a case–control association study of 435 patients with NTG and 419 normal controls. We genotyped four single nucleotide polymorphisms (SNPs) in genes responsible for RGC development, namely POU4F2 (rs13152799 and rs1504360), POU4F1 (rs9601092), and ISL1 (rs2288468), by either real-time PCR or PCR-RFLP, and evaluated its association with the risk of NTG development.

Results

No significant association was observed between the candidate SNPs and NTG development.

Conclusions

To the best of our knowledge, this is the first report exploring the association between genes regulating RGC development and NTG susceptibility. Our data could provide a reference for further researches that focus on finding additional potential SNPs of POU4F2, POU4F1, ISL1 or other RGC development genes for NTG.

中文翻译：

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POU4F1，POU4F2，ISL1多态性与正常血压青光眼之间没有关联。

背景

尽管眼内压正常，但发生正常血压的青光眼（NTG）具有遗传易感性。由于视网膜神经节细胞（RGC）是青光眼发病机理中的关键节点，因此认为RGC的神经变性是增加NTG发生风险的主要原因。在这里，我们旨在研究RGC发育基因中的多态性与NTG发育的关联。

材料和方法

我们对435名NTG患者和419名正常对照进行了病例对照研究。我们通过实时PCR或PCR-RFLP对负责RGC开发的基因中的四个单核苷酸多态性（SNP）进行了基因分型，分别是POU4F2（rs13152799和rs1504360），POU4F1（rs9601092）和ISL1（rs2288468），并评估了其关联性NTG发展的风险。

结果

没有观察到候选SNP与NTG发育之间的显着关联。

结论

据我们所知，这是第一个探讨调节RGC发育的基因与NTG敏感性之间关系的报告。我们的数据可以为进一步研究集中在寻找POU4F2，POU4F1，ISL1或其他NTG的RGC发育基因的其他潜在SNPs提供参考。