巴基斯坦人群Alu-repeat多态性与心肌梗死的关系

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摘要

组织型纤溶酶原激活物(t-PA)多态性,基因诱导的心肌梗死(MI)在高血压患者中尚不明确。纤溶酶原激活剂通过酶原纤溶酶原有限的蛋白水解生成纤溶酶。然后,纤溶蛋白降解凝块的纤维蛋白网络,形成血栓中的可溶性产物。t-PA的这种作用可被1型纤溶酶原激活物抑制剂(PAI-1)抑制。本研究确定了可能导致巴基斯坦人群心肌梗死发展的多态性的潜在插入/删除。该研究分析了来自350名心肌梗死患者、250名健康个体作为对照和100名高血压研究对象的血液样本。从每个个体的血液中提取基因组DNA,并进行聚合酶链反应研究组织纤溶酶原激活物(t-PA)基因多态性。使用卡方方法来揭示组间的人口统计学差异。与对照组相比,研究了病例/患者较高的胆固醇水平、甘油三酯、低密度脂蛋白胆固醇和较低的高密度脂蛋白胆固醇水平。在某些情况下,输入等位基因频率(“I”)与MI (p = 0.0354)有关。糖尿病、高血压、家族史、吸烟与心肌梗死密切相关(p<0.01)。心肌梗死与t-PA基因插入/缺失(I/D)和缺失/缺失(D/D)多态性无显著相关性,插入/插入(I/I)与心肌梗死有显著相关性,支持既往心肌梗死研究结果。
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Association of Alu-repeat Polymorphism and Myocardial Infarction in Pakistani Population
Polymorphism of tissue plasminogen activator(t-PA), gene-induced myocardial infarction (MI) is not well-defined in patients suffering from high blood pressure. Plasminogen activator generates the active enzyme by limited proteolysis of zymogen plasminogen to plasmin. Plasmin then degrades the fibrin network of a clot to form soluble product in thrombi. This action of t-PA can be suppressed by plasminogen activator inhibitor type1(PAI-1). This study determined the potential insertion/deletion of polymorphism that may contribute to the development of MI in Pakistani population. The study analyzed blood samples originating from three hundred and fifty patients with MI, two hundred and fifty healthy individuals as controls, and hundred hypertensive study subjects. The genomic DNA was extracted from the blood of each individual, and a Polymerase Chain Reaction was carried out to study polymorphism of Tissue plasminogen Activator (t-PA) gene. The Chi-square method was used to reveal the demographic differences among the groups. Cholesterol's higher levels, triglyceride, LDL-cholesterol, and lower HDL-cholesterol levels had been investigated in cases/patients in contrast with controls. In some cases, the input allele frequency ("I") is higher with MI (p = 0.0354). Diabetes, high blood pressure, family history, and smoking had a strong association with MI (p<0.01). No significant association between myocardial infarction and Insertion/Deletion (I/D) and Deletion/Deletion (D/D) polymorphism of t-PA gene, significant association found between Insertion/Insertion(I/I) and MI, which supports the results of previous MI studies.
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