Relationship between 4G/5G polymorphism of promoter of plasminogen activator inhibitor-1 gene and pulmonary thromboembolism / 中华老年医学杂志

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.