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静脉血栓栓塞症中组织因子和组织因子途径抑制物的基因多态性及血浆水平

Genetic polymorphisms and plasma levels of tissue factor and tissue factor pathway inhibitor in venous thromboembolism.

作者信息

Kwon Aerin, Jo Sang-Ho, Jo Yun-A, Park Ji-Young, Kim Miyoung, Kang Hee Jung, Kim Han-Sung, Cho Hyoun Chan, Lee Young Kyung

机构信息

aDepartments of Laboratory Medicine bInternal Medicine, Hallym University College of Medicine, Seoul, Korea.

出版信息

Blood Coagul Fibrinolysis. 2014 Jul;25(5):416-21. doi: 10.1097/MBC.0000000000000063.

Abstract

Tissue factor (TF) and tissue factor pathway inhibitor (TFPI) play important roles in coagulation. The aim of this study was to investigate the distributions of TF and TFPI polymorphisms in Koreans and to analyze the association of these genetic polymorphisms with plasma levels and development of venous thromboembolism (VTE). The polymorphisms TF 5466 A > G, TF -603 A > G, TFPI -287 T > C and TFPI -33 T > C were investigated in 40 Korean VTE patients and 40 age-matched and sex-matched controls by real-time PCR followed by melting curve analysis and DNA sequence analysis. Plasma levels of TF and TFPI were measured by enzyme-linked immunosorbent assay. The G allele of TF 5466 was not detected, and allelic frequencies of TF -603 G, TFPI -287 C and TFPI -33 C were 27.5, 67.5 and 16.2%, respectively. The distributions of TF and TFPI polymorphisms were not different between patients and controls. The presence of TF -603 G allele was correlated with low plasma TF levels (P = 0.029). Mean plasma TFPI levels were similar between TFPI genotypic groups. Although not statistically significant, plasma TF and TFPI levels were higher in patients than controls. The distributions of TF and TFPI polymorphisms in Koreans were considerably different from whites, suggesting ethnic variations. The TF -603 A > G polymorphism was significantly correlated with decreased plasma TF levels. Neither genetic polymorphisms in TF and TFPI nor their plasma levels seem to act as direct risk factors for VTE.

摘要

组织因子(TF)和组织因子途径抑制剂(TFPI)在凝血过程中发挥重要作用。本研究的目的是调查韩国人群中TF和TFPI基因多态性的分布情况,并分析这些基因多态性与血浆水平及静脉血栓栓塞症(VTE)发生发展之间的关联。通过实时聚合酶链反应(PCR)结合熔解曲线分析和DNA序列分析,对40例韩国VTE患者及40例年龄和性别匹配的对照者进行了TF 5466 A>G、TF -603 A>G、TFPI -287 T>C和TFPI -33 T>C基因多态性的研究。采用酶联免疫吸附测定法检测血浆中TF和TFPI的水平。未检测到TF 5466的G等位基因,TF -603 G、TFPI -287 C和TFPI -33 C的等位基因频率分别为27.5%、67.5%和16.2%。患者与对照者之间TF和TFPI基因多态性的分布无差异。TF -603 G等位基因的存在与血浆TF水平降低相关(P = 0.029)。TFPI基因分型组之间的平均血浆TFPI水平相似。尽管无统计学意义,但患者的血浆TF和TFPI水平高于对照者。韩国人群中TF和TFPI基因多态性的分布与白种人有显著差异,提示存在种族差异。TF -603 A>G基因多态性与血浆TF水平降低显著相关。TF和TFPI的基因多态性及其血浆水平似乎均不作为VTE的直接危险因素。

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