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哥斯达黎加青年血栓病患者纤维蛋白原β-链、血管紧张素转换酶和纤溶酶原激活物抑制剂-1 多态性的流行情况。

Prevalence of the fibrinogen beta-chain, angiotensin-converting enzyme and plasminogen activator inhibitor-1 polymorphisms in Costa Rican young adults with thrombotic disease.

机构信息

CIHATA, University of Costa Rica, Hospital San Juan de Dios, San Jose, Costa Rica.

出版信息

Cell Biochem Funct. 2010 Jul;28(5):367-73. doi: 10.1002/cbf.1655.

Abstract

Thrombotic disease is a multifactorial condition that involves both classical and genetic risk factors. We studied the association between the classical risk factors of hypertension and smoking, and polymorphisms on the genes of the angiotensin-converting enzyme (ACE), the beta-chain of fibrinogen (FG), and the plasminogen activator inhibitor-1 (PAI-1) in patients with venous and arterial thrombosis. The present investigation is a retrospective case-control study. A total of 340 participants were analyzed, including 162 patients and 178 healthy controls. Hypertension and smoking showed a significant association with thrombotic disease (p < 0.05) but FG level was found significant risk factor only for the venous thrombosis (VT) group (p < 0.04). Significant differences between thrombotic groups were found for the studied polymorphisms of PAI-1 (p < 0.0014), but for both FG beta-chain gene polymorphisms, none of the molecular analyses showed a positive sample for any mutating allele (p > 0.05). For the ACE polymorphism, the I allele present a protective effect in the general thrombotic group. This is one of the first reports in a Latin-American population dealing with these molecular markers and thrombotic diseases.

摘要

血栓性疾病是一种涉及经典和遗传危险因素的多因素疾病。我们研究了高血压和吸烟等经典危险因素,以及血管紧张素转换酶(ACE)、纤维蛋白原β链(FG)和纤溶酶原激活物抑制剂-1(PAI-1)基因多态性与静脉和动脉血栓形成患者之间的关系。本研究是一项回顾性病例对照研究。共分析了 340 名参与者,包括 162 名患者和 178 名健康对照。高血压和吸烟与血栓性疾病显著相关(p<0.05),但 FG 水平仅被发现是静脉血栓形成(VT)组的显著危险因素(p<0.04)。在研究的 PAI-1 多态性方面,血栓形成组之间存在显著差异(p<0.0014),但对于 FG β链基因的多态性,没有任何分子分析显示任何突变等位基因的阳性样本(p>0.05)。对于 ACE 多态性,I 等位基因在一般血栓形成组中具有保护作用。这是拉丁美洲人群中首次涉及这些分子标志物和血栓性疾病的报告之一。

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