ABSTRACT
Objective To investigate the relationship between 4G/5G polymorphism in the promotor of plasminogen activator inhibitor-1 (PAI-1) gene and pulmonary thromboembolism (PTE). And to detect whether it plays an important role in the pathogenesis of PTE. Methods The 76 patients with PTE, 74 gender and age matched healthy controls were recruited in this study. Genome DNA was extracted from whole blood using phenol-chloroform. Subjects were genotyped for the 4G/ 5G polymorphism of PAI-1 gene using polymerase chain reaction and restriction fragment length polymorphism analysis. Results Significant difference was found in the frequency of 4G/4G genotype between PTE group and control group (50.0% vs.24.3%,P<0.01). And there were no significant differences in 4G/5G and 5G/5G genotype between the two groups. The 4G allele frequency was higher in PTE group than in control group (72.4% vs. 55.4% , P<0.01) . The recessive allele model was informative and the odd ratio of 4G/4G genotype was much higher than of other two genotypes (OR=3.40, P<0.01). Further stratification showed 4G/4G genotype was associated with high risk of PTE for those individuals without traditional environment risk factors. Conclusions The 4G/5G polymorphism of PAI-1 gene is associated with PTE and 4G allele is recessive. 4G/4G genotype increases the risk of PTE for individuals who have no traditional risk factors of PTE.
ABSTRACT
Objective To investigate the effect of polymorphism of plasminogen activator inhibitor-1(PAI-1) promotor region gene,plasma tissue plasminogen activator(t-PA)and PAI-1 on patients with acute pulmonary thromboembolism(APTE).Method Fifty-two patients with APTE were divided into two groups according to the presence or absence of traditional enviromnent risk facters,and there were26 patients in each gnup,and auother 57 healthy indiriduals as controls were analyzed.The genotypos of subjects were determined for the 4G/5G polymorphism of PAI-1 gene using polymerase chain reaction based restriction fragment length polymorphism analysis.Plasma PAI-1 and tPA were measured by ELISA.Results(1)The ratio of 4G/4G genotype in group without traditional environment risk factors was much higher than that of the other two groups.(2)Plasma t-PA decreased and plasma PAI-1 elevated significantly in group without traditional environment risk factors compared with that of the other two groups.(3)Except the 5G homozygous,plasma PAI-1 level in group without traditional environgment risk factors was significantly higher than the other two groups.There existed correlation between 4G allele and plasma PAI-1.Conclusions 4G/5G polymorphism of PAI-1 gene is associated with AFFE.4G/4G genotype increases the risk of APTE for individuals without traditional risk factors.There are hypercoagulation and hypofibrinolysis in APTE patients without traditional risk factors.