Kaminska Anna, Banas-Lezanska Patrycja, Przybylowska Karolina, Gacek Mira, Majsterek Ireneusz, Szaflik Jerzy, Szaflik Jacek P
Department of Ophthalmology II, Medical Faculty, Medical University of Warsaw , Poland and.
Ophthalmic Genet. 2014 Mar;35(1):41-6. doi: 10.3109/13816810.2013.800892. Epub 2013 May 31.
It has been suggested that the matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) are involved in the degradation of extracellular matrix components, resulting in ocular tissue damage. The -735C/T and -1306C/T polymorphisms recognized in the promoter region of the MMP-2 gene resulting in its expression level were investigated in association with the development of primary open-angle glaucoma (POAG) in a Polish population.
DNA samples collected from 271 patients with POAG and 281 healthy controls were used in this study. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Clinical parameters of the rim area (RA) and retinal neuron fiber layer (RNFL) were also analyzed.
We found that the -735C/T and -1306C/T polymorphisms of MMP-2 were not associated with a risk of POAG. However, both the -735T/T (OR = 0.18 (0.04-0.92) p = 0.03) and the -1306T/T (OR = 0.14 (0.03-0.67) p = 0.007) genotypes of MMP-2 were significantly associated with the rim area factor in early stage of POAG suggesting its protective role in the disease progression.
Finally, our data suggest that gene polymorphisms of MMP-2 may have a protective role in the progression of primary open-angle glaucoma in a Polish population.
有人提出基质金属蛋白酶（MMPs）及其组织抑制剂（TIMPs）参与细胞外基质成分的降解，从而导致眼组织损伤。本研究在波兰人群中调查了MMP-2基因启动子区域中可导致其表达水平的-735C/T和-1306C/T多态性与原发性开角型青光眼（POAG）发病的相关性。
本研究使用了从271例POAG患者和281例健康对照者收集的DNA样本。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）来确定多态性。还分析了边缘区域（RA）和视网膜神经纤维层（RNFL）的临床参数。
我们发现MMP-2的-735C/T和-1306C/T多态性与POAG风险无关。然而，MMP-2的-735T/T（OR = 0.18（0.04 - 0.92），p = 0.03）和-1306T/T（OR = 0.14（0.03 - 0.67），p = 0.007）基因型与POAG早期的边缘区域因素显著相关，表明其在疾病进展中具有保护作用。
最后，我们的数据表明MMP-2的基因多态性可能在波兰人群原发性开角型青光眼的进展中具有保护作用。
