Apolipoprotein E and PAI-1 gene polymorphisms and no association with arterial ischemic stroke and peripheral arterial disease manifestations

ABSTRACT Introduction: Arterial thrombosis is considered a multifactorial disease, resulting from the interaction of genetic and acquired risk factors. Objectives: The aim of this study was to investigate the presence of the polymorphism in inhibitor of plasminogen activator type 1 (PAI-1) and apolipoprotein E (ApoE) genes and its interactions with PAI-1 levels and lipids and apolipoprotein profiles, respectively, as well as the frequencies of these polymorphisms and their association with thrombosis. Methods: Ninety-seven patients [48 with arterial ischemic stroke (IS) and 49 with peripheral arterial disease (PAD)], treated at the hematology medical service were included in this study. Polymorphisms were also investigated in 201 control subjects. Polymorphisms were investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: For the PAI-1 polymorphism, there were 54.2% heterozygous (HT) genotypes and 12.5% homozygous (HM) genotypes in the patients' group, and 52.7% HT genotypes and 21.3% HM genotypes in the controls. For the ApoE polymorphism, there were 56.3% (ε3ε3), 6.3% (ε4ε4), 8.3% (ε2ε3), 4.2% (ε2ε4) and 24.9% (ε3ε4) in the patients, and 61.2% (ε3ε3), 4.5% (ε4ε4), 8% (ε2ε3), 4.5% (ε2ε4) and 21.8% (ε3ε4) in the controls. Conclusion: No significant difference was observed by comparing patients and controls. In this study, no association was found between the presence of the evaluated polymorphisms and the occurrence of thrombotic events.

摘要
引言：动脉血栓形成被视为一种多因素疾病，由遗传危险因素与获得性危险因素相互作用所致。
研究目的：本研究旨在探讨纤溶酶原激活物抑制剂1型（plasminogen activator inhibitor type 1, PAI-1）与载脂蛋白E（apolipoprotein E, ApoE）基因的多态性情况，分别分析其与PAI-1水平、脂质及载脂蛋白谱的相互作用，同时明确上述基因多态性的发生频率及其与血栓形成的关联。
研究方法：本研究纳入97例于血液内科接受诊疗的患者，其中48例为动脉缺血性脑卒中（arterial ischemic stroke, IS）患者，49例为外周动脉疾病（peripheral arterial disease, PAD）患者；同时纳入201名对照者进行基因多态性检测。采用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP）方法对基因多态性进行分析。
研究结果：针对PAI-1基因多态性，患者组中杂合子（heterozygous, HT）基因型占比为54.2%，纯合子（homozygous, HM）基因型占比为12.5%；对照组中杂合子基因型占比为52.7%，纯合子基因型占比为21.3%。针对ApoE基因多态性，患者组中ε3ε3型占56.3%、ε4ε4型占6.3%、ε2ε3型占8.3%、ε2ε4型占4.2%、ε3ε4型占24.9%；对照组中ε3ε3型占61.2%、ε4ε4型占4.5%、ε2ε3型占8.0%、ε2ε4型占4.5%、ε3ε4型占21.8%。
研究结论：对比患者组与对照组，未观察到显著性差异。本研究未发现所评估的基因多态性与血栓事件发生之间存在关联。