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目的分析静脉血栓栓塞症(VTE)患者组织因子途径抑制物(TFPI)基因C-399T和T-287C多态性,探讨TFPI基因多态性与VTE形成的关系。方法应用聚合酶链反应-限制性片段多态性(PCR-RFLP)的方法检测VTE组110例(其中深静脉血栓患者75例,肺血栓栓塞症患者35例),116例正常人对照组的C-399T和T-287C基因型频率和等位基因频率。结果VTE组和对照组C-399T和T-287C基因型频数分布均符合Hardy-Weinberg平衡。VTE组患者C-399T具有纯合突变型(TT)个体的频数(23.6%)高于正常对照组(12.1%,P<0.05);杂合突变型(CT)和野生型(CC)两组与正常对照组比较差异均无统计学意义(均P>0.05)。VTE组患者TFPIT-287C具有纯合突变型(CC)及杂合突变型(TC),个体的频数与正常对照组比较差异均无统计学意义(均P>0.05)。结论TFPI基因C-399T多态性与我国人群VTE易感性有关,纯合突变基因型可能是VTE的重要危险因素。而TFPI基因T-287C多态性与我国人群VTE易感性无关。
Objective To analyze the polymorphisms of TFPI gene C-399T and T-287C in patients with venous thromboembolism (VTE) and to explore the relationship between TFPI gene polymorphism and the development of VTE. Methods 110 cases of VTE (including 75 cases of deep venous thrombosis, 35 cases of pulmonary thromboembolism) and 116 normal controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) C-399T and T-287C genotype frequencies and allele frequencies. Results The frequency distributions of C-399T and T-287C genotypes in VTE group and control group all fit Hardy-Weinberg equilibrium. The frequencies of C-399T homozygous mutant (TT) individuals in VTE group (23.6%) were higher than those in normal control group (12.1%, P <0.05) Compared with the normal control group, there was no significant difference (all P> 0.05). TFPIT-287C in patients with VTE had homozygous mutant (CC) and heterozygous mutant (TC). There was no significant difference in the frequency of TFPIT-287C between normal controls and VTE patients (all P> 0.05). Conclusion The C-399T polymorphism of TFPI gene is related to the susceptibility to VTE in Chinese population. The homozygous mutant genotype may be an important risk factor of VTE. The TFPI gene T-287C polymorphism and our population VTE susceptibility has nothing to do.