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肿瘤坏死因子-α -308 G/A 和肿瘤坏死因子受体 1+36 A/G 基因多态性与青光眼的相关性研究。

Association of TNFA -308 G/A and TNFRI +36 A/G gene polymorphisms with glaucoma.

机构信息

Department of Ophthalmology, Shiraz Medical School, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Ophthalmic Res. 2009;42(3):118-24. doi: 10.1159/000226108. Epub 2009 Jun 24.

Abstract

OBJECTIVE

TNF-alpha is one of the most important factors recognized in the pathogenesis of open-angle glaucoma. Therefore, the association of single nucleotide polymorphisms in the TNFRI gene and the promoter region of the TNFA gene with glaucoma susceptibility was investigated in the present study.

METHOD

In total, 223 patients with glaucoma and 202 unrelated controls were genotyped by allele-specific oligonucleotide PCR and PCR- restriction fragment length polymorphism to determine TNFA -308 G/A and TNFRI +36 A/G polymorphisms, respectively.

RESULTS

In contrast to TNFRI polymorphisms, the genotypes of TNFA -308 G/A polymorphisms showed a significant difference between patients and controls (p = 0.0025). Of interest, the distribution of TNFA genotypes was significantly different between patients with primary open-angle glaucoma (p = 0.001) or pseudoexfoliative glaucoma (p = 0.001) and controls, while no difference was found when chronic angle-closure glaucoma patients were compared to controls (p = 0.72).

CONCLUSION

In line with studies showing the role of TNF-alpha in open-angle glaucoma, the results of the present study showed that inheritance of the high producer TNFA -308 A allele might be a susceptibility factor for the development of open-angle glaucoma.

摘要

目的

TNF-α 是公认的开角型青光眼发病机制中的最重要因素之一。因此,本研究旨在探讨 TNFRI 基因和 TNFA 基因启动子区中单核苷酸多态性与青光眼易感性的关系。

方法

本研究通过等位基因特异性寡核苷酸 PCR 和 PCR- 限制性片段长度多态性对 223 例青光眼患者和 202 例无关对照者进行基因分型,以确定 TNFA-308 G/A 和 TNFRI+36 A/G 多态性。

结果

与 TNFRI 多态性不同,TNFA-308 G/A 多态性的基因型在患者和对照组之间存在显著差异(p=0.0025)。有趣的是,TNFA 基因型在原发性开角型青光眼(p=0.001)或假性剥脱性青光眼(p=0.001)患者与对照组之间的分布存在显著差异,而慢性闭角型青光眼患者与对照组之间无差异(p=0.72)。

结论

与 TNF-α 在开角型青光眼中的作用研究结果一致,本研究结果表明,高产生 TNF-α-308 A 等位基因的遗传可能是开角型青光眼发展的易感因素。

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