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与血栓性疾病相关的遗传多态性比较:心肌梗死和缺血性脑卒中。

Genetic Polymorphisms Associated with Thrombotic Disease Comparison of Two Territories: Myocardial Infarction and Ischemic Stroke.

机构信息

Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, H.G.R. No. 1. Dr. "Carlos Mac Gregor Sánchez Navarro" Instituto Mexicano del Seguro Social, Ciudad de México, Mexico.

Servicio de Urgencias, H.G.R. No. 1. Dr. "Carlos Mac Gregor Sánchez Navarro" Instituto Mexicano del Seguro Social, Gabriel Mancera No. 222, Colonia Del Valle, CP 03100 Ciudad de México, Mexico.

出版信息

Dis Markers. 2019 Oct 30;2019:3745735. doi: 10.1155/2019/3745735. eCollection 2019.

Abstract

BACKGROUND AND PURPOSE

The thrombin-activatable fibrinolysis inhibitor (TAFI) is an important inhibitor of fibrinolysis and plays a critical role in the pathogenesis of arterial thrombosis; genetic polymorphisms of the TAFI gene affect its activity and increase the risk of thrombosis. Moreover, studies in young patients are still scarce. The aim was to examine the contribution of the Thr325Ile and Ala147Thr polymorphisms with ST acute myocardial infarction (STEMI) or idiopathic ischemic stroke (IIS) in the young Mexican population.

METHODS

A total of 244 patients with STEMI ≤45 years of age and 244 controls. In a second study, 250 patients with IIS ≤45 years of age were recruited, including 250 controls. In both studies, cases and controls were matched by age and sex. The polymorphisms were determined in all participants by PCR-RFLP.

RESULTS

There was significant difference in the Thr325Ile genotype distribution ( = 0.001) and allele frequency ( = 0.001) between STEMI and control groups, but no difference in the Ala147Thr genotype distribution ( = 0.24) and allele frequency ( = 0.46), neither in the Thr325Ile genotype distribution ( = 0.25) nor in the Ala147Thr genotype distribution ( = 0.46) or their allele frequencies; there was significant difference between IIS and the control group. There were independent factors for STEMI: the Ile allele ( = 0.01), type 2 diabetes mellitus ( = 0.001), hypertension ( = 0.001), smoking ( = 0.001), dyslipidemia ( = 0.001), and family history of atherothrombotic disease ( = 0.001). The independent factors for IIS were hypertension ( = 0.001), smoking ( < 0.01), and family history of atherothrombotic disease ( < 0.01).

CONCLUSIONS

The Thr325Ile polymorphism, but no Ala147Thr polymorphism, represents an independent risk factor for STEMI in the young Mexican population.

摘要

背景与目的

凝血酶激活的纤溶抑制物(TAFI)是纤溶的重要抑制剂,在动脉血栓形成的发病机制中起着关键作用;TAFI 基因的遗传多态性影响其活性并增加血栓形成的风险。此外,针对年轻患者的研究仍然很少。本研究旨在探讨年轻墨西哥人群中凝血酶激活的纤溶抑制物基因 Thr325lle 和 Ala147Thr 多态性与 ST 段抬高型急性心肌梗死(STEMI)或特发性缺血性卒中(IIS)的相关性。

方法

共纳入 244 例年龄≤45 岁的 STEMI 患者和 244 例对照组。在第二项研究中,招募了 250 例年龄≤45 岁的 IIS 患者,包括 250 例对照组。在两项研究中,病例组和对照组均按年龄和性别匹配。所有参与者均通过 PCR-RFLP 法检测多态性。

结果

STEMI 组和对照组之间 Thr325lle 基因型分布( = 0.001)和等位基因频率( = 0.001)存在显著差异,但 Ala147Thr 基因型分布( = 0.24)和等位基因频率( = 0.46)、Thr325lle 基因型分布( = 0.25)和 Ala147Thr 基因型分布( = 0.46)或其等位基因频率均无差异;IIS 组与对照组之间存在显著差异。STEMI 的独立危险因素包括 Ile 等位基因( = 0.01)、2 型糖尿病( = 0.001)、高血压( = 0.001)、吸烟( = 0.001)、血脂异常( = 0.001)和动脉粥样硬化性血栓性疾病家族史( = 0.001)。IIS 的独立危险因素包括高血压( = 0.001)、吸烟( < 0.01)和动脉粥样硬化性血栓性疾病家族史( < 0.01)。

结论

Thr325lle 多态性而非 Ala147Thr 多态性是年轻墨西哥人群 STEMI 的独立危险因素。

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