组织因子启动子-1208 I/D基因多态性与静脉血栓栓塞的相关性研究

Correlation Analysis of Tissue Factor Promotor Polymorphism-1208I/D and Venous Thromboembolism

本研究旨在探讨组织因子启动子-1208I/D基因多态性与静脉血栓栓塞(venous thromboembolism,VTE)的相关性。采用聚合酶链反应及DNA测序,对96例深静脉血栓(deep venous thrombosis,DVT)患者、14例肺栓塞(pulmonary embolism,PE)患者和59例健康人进行组织因子(tissue factor,TF)基因启动子序列-1208位点基因多态性分析。结果表明:该位点的基因变异为18bp碱基的插入,存在D/D、I/D、I/I三种基因型,基因型分布在对照组分别为D/D型67.8%,I/D型25.4%,I/I型6.8%,DVT组分别为D/D62.5%,I/D29.8%,I/I8.3%,PE组分别为D/D57.1%,I/D35.7%,I/I7.1%;D等位基因频率和I等位基因频率在对照组分别为80.5%、19.5%,DVT组分别为77.1%、22.9%,PE组分别为75.0%、25.0%。基因型分布和等位基因频率在各组间的差异无统计学意义。结论:TF启动子-1208I/D基因多态性与VTE的发病没有显著相关性,该基因可能不是中国汉族人VTE的易感基因。TF基因多态性有待深入研究。

The study was aimed to investigate the correlation of tissue factor promotor polymorphism -1208L/D with the venous thromboembolism in patients. Tissue factor promotor polymorphism -1208 was detected by polymerase chain reaction （PCR） and DNA sequencing in 96 cases of DVT, 14 cases of PE and 59 nonthrombosis normal individuals. The results showed that the allele containing a 18-bp nucleotides insertion at -1208. 67.8% of normal individuals exhibited D/D, 25.4% were heterozygous I/D, and 6.8% were homozygous for I/I. DVT group and PE group exhibited a similar distributions（62.5% D/D, 29.8% L/D, 8.3% L/I and 57.1% D/D, 35.7% L/D, 7.1% L/I）. The allele frequencies of D and the allele frequencies of I in the normal control, DVT and PE groups were 80.5% ,77.1%, 75.0% and 19.5% ,22.9%, 25.0% respectively. There was no significant difference in the TF-12081/D genotype frequency be- tween the groups of patients and normal individuals. In conclusion, there is no correlation of the tissue factor promotor polymorphism -1208L/D in the patients with venous thromboembolism. The gene of promoter -1208 I/D may not be a major susceptible gene of VTE in Chinese Han. Further investigations would be necessary to define accurately tissue factor gene polymorphisms.