Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population
Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population
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发表时间：
2013-02
期刊：
影响因子：
2.2
通讯作者：
Shazia Micheal;Sajeela Yousaf;M. Khan;Farah Akhtar;Farah Islam;W. Khan;A. D. den Hollander;R. Qamar;Asifa Ahmed
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作者：
Shazia Micheal;Sajeela Yousaf;M. Khan;Farah Akhtar;Farah Islam;W. Khan;A. D. den Hollander;R. Qamar;Asifa Ahmed
目的基质金属蛋白酶（MMPs）在包括眼在内的多种组织发育和生长过程中细胞外基质的重塑中起重要作用。基质金属蛋白酶的各种功能多态性与不同类型青光眼的发病机制有关。本研究的目的是调查巴基斯坦青光眼患者的各种多态性的作用。方法对112例原发性开角型青光眼（POAG）、82例原发性闭角型青光眼（PACG）和118例正常人进行病例对照研究。基因分型的多态性进行PCR，然后限制性片段长度多态性分析。结果MMP 1 rs 1799750（-1607 1G/2G）基因型频率在POAG患者和对照组中差异有统计学意义（p=0.001）。这归因于女性受试者（p 0.47）。此外，与对照受试者（pC）和MMP 9（c.-836 A>G）相比，在PACG患者中观察到MMP 9 rs 17576（c. 836 A>G）基因型频率的显著差异。1562 C>T）多态性。结论：我们的数据表明，MMP 1 rs 1799750（-1607 1G/2G）和MMP 9 rs 17576多态性可能是有价值的进一步研究作为潜在的性别依赖性的危险因素，发展POAG和PACG，分别在巴基斯坦。
Purpose Matrix metalloproteinases (MMPs) play an important role in remodeling of the extracellular matrix during development and growth of various tissues including the eye. Various functional polymorphisms in MMPs have been implicated in the pathogenesis of different types of glaucoma. The aim of the present study was to investigate the role of various polymorphisms in Pakistani patients with glaucoma. Methods The present case-control study included 112 patients with primary open-angle glaucoma (POAG), 82 patients with primary angle closure glaucoma (PACG), and 118 control subjects. Genotyping of polymorphisms was done using PCR followed by restriction fragment length polymorphism analysis. Results A significant difference in the genotype frequencies of MMP1 rs1799750 (−1607 1G/2G) was observed between the patients with POAG and the control subjects (p=0.001). This was attributed to the female subjects (p0.47). In addition, a significant difference was observed in genotype frequencies of MMP9 rs17576 (c.836A>G) in patients with PACG compared to the control subjects (pC) and MMP9 (c.-1562C>T) polymorphisms. Conclusions Our data suggest that the MMP1 rs1799750 (−1607 1G/2G) and MMP9 rs17576 polymorphisms might be of value for further study as potential gender-dependent risk factors for developing POAG and PACG, respectively, in Pakistan.