PAI-1启动子区插入/缺失(5G/4G)多态性与脑血管病的相关性研究

The study of PAI-1 promotor region gene polymorphism in cere brovascular disease

目的 初步探讨人类纤溶酶原激活物抑制物 - 1(plasminogen ativator inhibitor- 1,PAI- 1)启动子区基因多态性与脑血管病的关系 ,及其在脑血管病发病过程中的作用。方法 通过多聚酶链反应技术和发色底物法 (EL ISA) ,测定了 96例脑卒中患者和 6 0名健康对照者的白细胞 PAI- 1启动子区 4G/ 5 G多态位点的基因型及血浆 PAI- 1活性。结果 脑梗死 (cerebral infarction,CI)组血浆 PAI- 1活性明显高于脑出血 (cerabral hemorrhage,CH)组及对照组 ,脑梗死和脑出血组中均以纯合子 4G/ 4G基因型患者的 PAI-1血浆活性水平最高 ,5 G/ 5 G基因型最低 ,杂合子 4G/ 5 G基因型居中 ;4G纯合子基因型与其它二型之间比较差异均有显著性 ,4G/ 5 G与 5 G/ 5 G基因型之间比较差异无显著性。CI组 4G/ 4G纯合子基因型与对照组比较差异有显著性 (P<0 .0 5 ) ,CI组基因型与 CH组及 CH组与对照组基因型比较差异均无显著性 (P>0 .0 5 )。CI组女性 4G纯合子基因型患者血浆 PAI- 1活性与同型男性患者比较差异有显著性 (P<0 .0 5 )。结论 纯合子 4G/ 4G基因型可能是 CI发病的危险因素之一 ,4G纯合子个体可能具有较高的 CI发病倾向 ,尤其可能与女性

Objective: To investigate the relationship between the plasminogen activator inhibitor-1 (PAI-1) gene polymorphism and cerebrovascular disease and detect whether it plays an important role in the pathogenesis of cerebrovascular disease. Methods: Peripheral blood leukocytes samples were collected from 60 normal controls, 65 patients with acute cerebral infarction (CI) and 31 hypertensives complicated with cerebral hemorrhage. The 4G/5G allele polymorphism in the PAI-1 gene promotor region of the leukocytes was genotyped by polymerase chain reaction. The plasma PAI-1 activity was assayed by ELISA. Results: The plasma PAI-1 activity level in the CI group was significantly higher than those in the other two groups. PAI-1 level in 4G allele homozygous genotype was significantly higher than the PAI-1 levels in 4G/5G heterozygous and 5G homozygous. Although PAI-1 level was higher in 4G/5G heterozygous genotype than in 5G homozygous, the difference was not statistically significant. There were significant differences between acute cerebral infarction PAI-1 gene polymorphism and controls (P O.05), and the PAI-1 levels of the 4G/4G genotype in the female patients with CI were higher than those in the male patients with CI of the same genotype. Conclusion: The results suggest that PAI-1 gene polymorphism may be a susceptible factor to acute cerebral infarction in Chinese, and 4G allele homozygous genotype may be the major risk factor for acute cerebral infarction, and it may be especially an independent risk factor of cerebral infarction in female patients.