Hu Keqi, Zhou Daquan, Ao Xiangsheng, Liu Handong, Chen Feng, Wen Hongbin
Department of Neurosurgery, Xiangyang Central Hospital Xiangyang, Hubei, China.
Department of Neurology, Xiangyang Central Hospital Xiangyang, Hubei, China.
Int J Clin Exp Pathol. 2020 May 1;13(5):1169-1175. eCollection 2020.
: Aneurysmal subarachnoid hemorrhage (aSAH)-associated gene polymorphism is of great significance for the accurate diagnosis and individualized treatment of aSAH. This study aims to investigate the expression of matrix metalloproteinase-9 (MMP-9) gene in the peripheral blood of patients with aneurysmal subarachnoid hemorrhage (aSAH) and explore the correlations of MMP-9 polymorphisms with the onset and prognosis of the disease. : A total of 80 aSAH patients (aSAH group) and 24 healthy (control group) people receiving physical examination were enrolled in the study. Western blotting was applied to detect the expression of MMP-9 gene in the peripheral blood in aSAH patients and healthy people. The genotyping of single nucleotide polymorphisms (rs42512, rs56212 and rs61221) in the promoter region of MMP-9 gene was analyzed by means of conformation-difference gel electrophoresis. Chi-square test was applied to examine the applicability of the distribution frequency of MMP-9 genotypes with genetic equilibrium law. The correlations of MMP-9 alleles and gene polymorphisms with the onset and prognosis of aSAH were determined. : The expression of MMP-9 protein in aSAH group was significantly higher than that in control group (<0.05). The Hardy-Weinberg equilibrium analysis showed that MMP-9 gene polymorphisms were in agreement with the genetic equilibrium law. According to the results of genetic association analysis, only the polymorphism rs42512 and its alleles were significantly correlated with the onset and prognosis of aSAH (<0.05). However, polymorphisms rs56212 and rs61221 and their alleles had no association with the onset and prognosis of aSAH (>0.05). : The polymorphism rs42512 in the promoter region of MMP-9 gene is related to the onset of aSAH, which provides further evidence for the diagnosis of aSAH.
动脉瘤性蛛网膜下腔出血(aSAH)相关基因多态性对aSAH的准确诊断和个体化治疗具有重要意义。本研究旨在探讨动脉瘤性蛛网膜下腔出血(aSAH)患者外周血中基质金属蛋白酶-9(MMP-9)基因的表达情况,并探讨MMP-9基因多态性与该疾病发病及预后的相关性。:本研究共纳入80例aSAH患者(aSAH组)和24例接受体检的健康人(对照组)。采用蛋白质免疫印迹法检测aSAH患者和健康人外周血中MMP-9基因的表达。通过构象差异凝胶电泳分析MMP-9基因启动子区域单核苷酸多态性(rs42512、rs56212和rs61221)的基因分型。应用卡方检验检验MMP-9基因型分布频率是否符合遗传平衡定律。确定MMP-9等位基因和基因多态性与aSAH发病及预后的相关性。:aSAH组MMP-9蛋白表达明显高于对照组(<0.05)。Hardy-Weinberg平衡分析表明,MMP-9基因多态性符合遗传平衡定律。根据遗传关联分析结果,仅多态性rs42512及其等位基因与aSAH的发病及预后显著相关(<0.05)。然而,多态性rs56212和rs61221及其等位基因与aSAH的发病及预后无关(>0.05)。:MMP-9基因启动子区域的多态性rs42512与aSAH的发病有关,为aSAH的诊断提供了进一步的证据。