脂蛋白脂酶基因Ser447→终止密码突变多态性与缺血性脑血管病的关系

目的:探讨中国人群中脂蛋白脂酶Ser447→终止密码突变(Ser447Stop)多态性与缺血性脑血管病(ICVD)的相关性。方法:共纳入ICVD患者112例(短暂性脑缺血发作36例,脑梗死76例)和对照者105例,用聚合酶链反应和限制性片段长度多态性分析确定其基因型。结果:ICVD组CG GG基因型频率显著低于对照组(0·161比0·391,OR=3·3,95%CI1·1~7·8,P=0·002)。ICVD亚组分析表明,短暂性脑缺血发作组CG GG基因型频率与对照组无显著差异,而脑梗死与对照组却有显著差异。结论:脂蛋白脂酶基因Ser447Stop多态性与ICVD特别是脑梗死呈显著相关性,可能是ICVD的一种保护性因素。

The Correlation Between Ser447-Stop Polymorphism of Lipoprotein Lipase Gene and Ischemic Cerebrovascular Disease

Objectives: To investigate the correlation between the Ser447-stop polymorphism of lipoprotein lipase (LPL) and ischemic cerebrovascular disease (ICVD) in Chinese. Methods: One hundred and twelve ICVD patients (36 transient ischemic attack TIA and 76 cerebral infarction) and 105 control subjects were recruited. Their genotypes were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The CG and GG genotype frequencies in the ICVD group were significantly lower than those in the control group (0.161 vs 0.391, odds ratio OR=3.3, 95% confidence interval CI, 1.1-7.8; P=0.002). ICVD subtype analysis showed that the CG and GG genotype frequency was of no difference between the TIA group and control group, but there was significant difference between the cerebral infarction group and control group. Conclusions: The Ser447-stop polymorphism of LPL gene is closely correlated with ICVD, particularly cerebral infarction. It may be a protective factor against ICVD.