血浆纤溶酶原激活物抑制剂-1基因启动子区4G/5G多态性与周围动脉闭塞性疾病关系的研究

Relationship between 4G/5G genetic polymorphism of the plasminogen activator inhibitor-1( PAI-1) gene and peripheral arterial occlusive disease

目的 从分子遗传学水平进行基因多态性研究 ,探讨血浆纤溶酶原激活物抑制剂 1(plasminogenactivatorinhib itor 1,PAI 1)基因启动子区单核苷酸缺失 插入 (4G 5G)多态性与周围动脉闭塞性疾病之间的关系 ,以期阐明遗传易感因素在该疾病中的作用。方法 将研究对象分为 3组 :正常对照组 (Ⅰ组 )、原发性高血压病组 (Ⅱ组 )以及原发性高血压合并周围动脉闭塞性疾病组 (Ⅲ组 ) ,每组均选取 10 0例 ,应用等位基因特异性聚合酶链反应分别对其进行PAI 1基因启动子 4G 5G多态性分析。结果 第Ⅲ组PAI 1基因启动子 4G 4G基因型频率 (0 .4 6 )及 4G等位基因频率 (0 .6 5 )与第Ⅰ组 (0 .2 7和 0 .5 3)及第Ⅱ组 (0 .2 9和 0 .5 5 )相比较 ,差异有显著性意义 ,而第Ⅰ组与第Ⅱ组间差异则无显著性意义 ;第Ⅲ组的总胆固醇、低密度脂蛋白胆固醇水平均明显高于第Ⅰ组及第Ⅱ组 ,差异有显著性意义。结论 PAI 1基因启动子区 4G 5G的多态性可能与周围动脉闭塞性疾病有关 ,其 4G

Objective To explore the relationship between the plasminogen activator inhibitor 1(PAI 1) gene 4G/5G promotor polymorphism and peripheral arterial occlusive diseases(PAOD).Methods The genetic polymorphism of PAI 1 gene was analyzed by allele specific polymerase chain reaction(AS PCR)technique in 100 patients with primary hypertension(group Ⅱ),100 patients with primary hypertension in company with PAOD(group Ⅲ),and 100 subjects as control(group Ⅰ).Results The frequency of 4G/4G genotype(0.46) and 4G allele frequency(0.65) of PAI 1 gene significantly increased in the group Ⅲ compared with the groups Ⅰ(0.27 and 0.53) and group Ⅱ(0.29 and 0.55;P<0.05,respectively).While no significant difference was found between the group Ⅰ and group Ⅱ;the levels of total cholesterol and low density lipoprotein cholesterol( LDL C) were significantly increased in group Ⅲ compared with the other two groups(P<0.05,respectively).Conclusions The 4G/5G genetic polymorphism of PAI 1 gene is possiblly associated with PAOD,the 4G/4G genotype might be a risk factor of PAOD.