下肢深静脉血栓形成患者PAI1启动子4G/5G基因多态性与PAI1血浆含量的关联性研究(英文)

Association of 4G/5G polymorphism in PAI1 promoter with PAI1 level in deep vein thrombosis

目的研究在中国汉族人群下肢深静脉血栓形成(deep veinthrombosis,DVT)患者中纤溶酶原激活物抑制剂1(plasmino-gen activator,in hibitor1,PAI1)基因PAI1启动子4G/5G多态性与血浆PAI1抗原水平的关系及其在该病发病中的作用。方法应用聚合酶链反应测定了120例中国汉族DVT患者和120名正常人的PAI1启动子4G/5G多态性,并测定了他们的血浆PAI1抗原、tPA抗原、TC、TG、Glu和Fib水平。结果(1)DVT组和正常对照组在PAI1启动子4G/5G多态性的基因型分布上差异无统计学意义,且均符合Hardy-Weinberg平衡规律。(2)血浆PAI1含量水平依4G/4G型、4G/5G型和5G/5G型顺序递减,4G/4G型与4G/5G型或5G/5G型间差异有显著性。(3)在4G/4G型和4G/5G型,甘油三酯是血浆PAI1抗原水平的独立决定因素。结论在中国汉族人群的DVT患者中,PAI1启动子4G/5G多态性与其血浆水平有密切关系,该基因多态性与DVT的患病危险性间缺乏关联性,表明其本身在该病发病机制中没有直接的因果效应。

Objective To reveal the association of 4G/5G polymorphism in the promoter region of the plasminogen activator inhibitor 1 gene（ PAI1 ） with plasma PAI1 level in deep vein thrombosis （DVT） in Chinese Han ethnic group. Methods One htmdred and twenty Chinese DVT patients and 120 healthy controls were recruited. The PAil promoter 4G/5G polymorphism was detected using polymerase chain reaction （PCR）. The antigen of tissue-type plasminogen activator （tPA） or PAI1 was quantified by a commercially available enzyme-linked immtmosorbent assay （ELISA） in DVT cases and health controls, respectively. Results Neither in the distribution of PAI1 promoter 4G/5G polymorphism nor in the frequencies of 4G and 5G allele was there a difference between two groups. The levels of PAI1 antigen in the carriers of the 4G/4G genotype were significantly higher than those either in the 4G/5G genotype or in the 5G/5G genotype; In the 4G/5G genotype or in the 5G/5G genotype the TG levels are an independently determinant factor of PAI1 antigen levels. Conclusion There is a close relationship of the PAI1 4G/5G polymorphism to its plasma level in deep vein thrombosis in Chinese Han ethnic group, although lack of association between this genetic variation and risk of DVT suggest no major cause-effect pathogenic role of this polymorphism by itself.