急性心肌梗死患者脂蛋白脂肪酶基因Ser447Stop的多态性研究

Relationship between Ser447Stop polymorphism of lipoprotein lipase gene and acute myocardial infarction

目的探讨中国人群中脂蛋白脂肪酶基因Ser447Stop多态性与急性心肌梗死的相关性。方法应用PCR和限制性片段长度多态性分析的方法测定86例急性心肌梗死患者和90例对照组脂蛋白脂肪酶基因Ser447Stop多态性。结果急性心肌梗死组的CG+GG基因型频率显著低于对照组(分别为0.174和0.422,P<0.05)。急性心肌梗死组的G等位基因频率为0.087,亦显著低于对照组的0.217。急性心肌梗死亚组间的分析显示,血脂异常组CG+GG基因型与G等位基因频率均显著低于血脂正常组(P<0.05)。结论脂蛋白脂肪酶基因Ser447Stop多态性与急性心肌梗死有一定的相关性,G等位基因可能是急性心肌梗死的一个保护性因素。

Objective To investigate the relationship between Ser447Stop polymorphism of LPL and acute myocardial infarction（AMI） in Chinese patients. Methods 86 AMI patients and 90 control subjects were recruited and the Ser447Stop polymorphism of LPL gene was analyzed by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. Results The CG ＋ GG genotype frequencies in the AMI group and control group were 0. 174 and 0. 422, respectively. The prevalence of the CG ＋ GG genotype was significantly lower in the AMI patients than that in control group （P 〈 0. 05 ）, The allele G frequencies of LPL Ser447Stop gene were significantly lower in AMI（0. 087 ） than that in control group（0. 217） （P 〈 0. 05 ）. The frequencies of the CG ＋ GG genotype and allele G in AMI patients with high plasma triglyceride and lowed plasma high density lipoprotein cholesterol were lower than those in AMI patients without hyperlipidemia （ P 〈 0. 05 ）. Conclusions The Ser447Stop polymorphism of the LPL gene is implicated in the pathogenesis pathogenesis of AMI and the allele G maybe play a protective effect in the development of AMI.