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

目的 初步探讨人类纤溶酶原激活物抑制物－1（plasminogen ativator inhibhitor-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（ELISA），测定了96例脑卒中患者和60名健康对照者的白细胞PAI－1启动子区4G／5G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，5G／5G基因型最低，杂合子4G／5G基因型居中；4G纯合子基因型与其它二型之间比较差异无有显著性，4G／5G与5G／5G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＜0．05），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＞0．05）。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＜0．05）。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CI发病相关。

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

Objective To investigate the relationship between the p lasminogen ac tivator inhibitor-1(PAI-1) gene polymorphism and cerebrovascular disease and d etect whether it plays an important role in the pathogenesis of cerebrovascular disease. Methods Peripheral blood leukocytes samples were c ollected fro m 60 normal controls, 65 patients with acute cerebral infarction(CI) and 31 hype rten sives 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 ass ayed 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 significantl y higher than the PAI-1 levels in 4G/5G heterozygous and 5G ho mozygous. Although PAI-1 level was higher in 4G/5G heterozygous genotype than in 5G homozygous, the difference was not statistically significant. There were s ignificant differences between acute cerebral infarction PAI-1 gene polymorphis m and controls ( P< 0 05), and the frequencies of 4G/4G genotype in patients with acute cerebral infarction (43.08%) were higher than those in normal controls (2 0.00%, P< 0.05). There were no significant differences between hypertensives comp licated with hemorrhage (25.81%) and controls ( P> 0.05), and the PAI-1 leve ls of the 4G/4G genotype in the female patients with CI were higher than those i n the male patients with CI of the same genotype. Conclusion The results s uggest that PAI-1 gene polymorphism may be a susceptible factor to acute cerebr al infarction in C hinese, 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 cere bral infarction in female patients. [