摘要目的　探讨组织型纤溶酶原激活物抑制物1 (PAI-1)启动子基因多态性与中国汉族人心肌梗死发病的关系。方法　采用多聚酶链反应—限制性内切酶片段长度多态(PCR—RFLP)与等位基因特异PCR (ASPCR)法确定87例心肌梗死患者和92例无亲缘关系的正常对照者启动子上游基因型多态，同时检测受试者临床指标及PAI-1的活性。结果　PAI-1基因启动子上游—844bp处存在G/A置换多态及-675bp处4G/5G缺失/插入多态。病例组与对照组间GG、GA、AA基因型频率及PAI-1活性均无明显差别。心肌梗死组与对照组相比4G/4G型频率明显增高(P<0.05)，病例组4G/4G型PAI-1活性明显高于5G/5G型(P<0.05)，且血糖水平与PAI-1活性间有明显正相关关系(r=0.34, P=0.02)。结论　PAI-1启动子基因多态性与心肌梗死发病相关。4G/4G型可能是发病的重要危险因素。血糖对调节PAI-1活性有重要作用。

abstractsObjective　To investigate the association between gene polymorphism of the plasminogen activator inhibitor-1 (PAI-1) and myocardial infarction (MI) in Chinese.Methods　PAI-1 genotyping with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific polymerase chain reaction (ASPCR) was performed in 87 myocardial infarction patients and 92 unrelated healthy controls. All subjects'clinical features and PAI-1 activity were tested. Results　There were two polymorphisms within the promoter, a G/A single base substitution polymorphism upstream at -844*!bp, and a single guanosine deletion/insertion 4G/5G polymorphism -675*!bp upstream from the start of transcription. Significant differences between the patients and the controls were observed neither for the frequencies of the GG, GA and AA genotypes nor for the PAI-1 activities of these three types. But for the 4G/5G polymorphism, there were significant differences between patients and controls for the frequencies of the 4G/4G, 4G/5G and 5G/5G genotypes (P<0.05). In the MI group, the PAI-1 activity of the 4G/4G type was significantly higher than that of the 5G/5G type (P<0.05). Further more, a positive correlation between the glucose level and PAI-1 activity was found (r=0.34, P=0.02).Conclusion　This study indicates that the 4G/5G gene polymorphism of PAI-1 is associated with myocardial infarction, that 4G/4G type is probably an important hereditary risk factor, and that glucose has functional importance in regulating PAI-1 activity.