纤溶酶原激活物抑制物-1基因4G/5G基因型分布频率与心肌梗死和脑梗死相关性初步分析

4G/5G Polymorphism of the plasminogen activator inhibitor-1 in myocardial and cerebrovascular infarction:a primary study

目的 研究我国汉族人纤溶酶原激活物抑制物 1基因启动子区 675位 4G 5G(单鸟嘌呤核苷酸插入 缺失 )基因多态性与心肌梗死和脑梗死的等位基因特异性的相关性。方法 以等位基因特异性聚合酶链反应 (AS PCR)扩增 56例心肌梗死患者 ,54例脑梗死患者 ,83例无关健康对照个体的基因组DNA ,鉴定PAI 1 4G 5G基因型及分布频率 ,常规方法检验研究个体的主要临床和生化指标。结果 PAI 1基因启动子区 4G 5G基因多态性在心肌梗死 ,脑梗死患者组中的分布频率与对照组明显不同。在心肌梗死组中 ,4G 4G基因型分布频率(71 .40 % )比对照组 (30 .1 2 % )显著增加 (P <0 .0 0 1 ) ,杂合型 4G 5G基因型分布频率 (2 5 .0 0 % )比对照组(62 .65 % )明显降低 ;而在脑梗死组中 ,4G 4G ,4G 5G基因型分布频率 (分别为 2 0 .37% ,55 .56 % )均比对照组 (分别为 30 .1 2 % ,62 .65 % )低 ,5G 5G基因型明显增加 (2 4 .0 7%vs 7.32 % ,P <0 .0 0 1 )。而且心梗组中血浆PAI 1活性水平随着 4G等位基因的减少而降低 ;脑梗死组中 ,血浆PAI 1活性水平随着 5G等位基因的升高而增加。心肌梗死、脑梗死患者组中的血浆PAI 1活性水平 ,甘油三酯水平和血糖水平都比对照组明显升高 (分别为P <0 .0 0 1 ,P <0 .0 5 ,P <0 .0 0 1 )。结论 本研究?

Objective To investigate the relationship between the 4G/5G gene polymorphism of the plasminogen activator inhibitor 1 (PAI 1) and myocardial and cerebrovascular infarctions.Methods The PAI 1 4G/5G genotype was identified with allele specific polymerase chain reaction (AS PCR) in 56 myocardial infarction patients, 54 cerebrovascular infarction patients and 83 unrelated healthy controls. All subjects' clinical features and plasma PAI 1 activity levels were tested as usual. Results The PAI 1 genotype distribution frequency of the single guanine deletion/insertion 4G/5G polymorphism (which was sited at 675bp upstream from the start of transcription) was significantly different between the patients and the healthy controls. In myocardial infarction (MI) group, the 4G/4G genotype frequency was noticeably increased (71.40 % vs 30.12 % ) while 4G/5G genotype was decreased (25.00 % vs 62.65 % ) as compared with the control one. In cerebrovascular infarction (CI) group, the frequencies of both 4G/4G and 4G/5G genotypes were lower than those in the control one (P< 0.001 ). Moreover, the plasma PAI 1 activity level in MI group lowered with decrease in the 4G allele. In CI group,the 5G/5G frequency was markedly higher than that of the control one (P<0.001). The plasma PAI 1 activity level in CI group was elevated with increase in the 5G allele. Conclusions This study indicates that the 4G/5G gene polymorphism of PAI 1 probably associated with the risk of myocardial infarction and cerebrovascular infarction.This deletion/insertion polymorphism is probably an important hereditary risk factor.