脂蛋白脂肪酶基因Ser447Stop多态性与缺血性脑血管病的关系

Ser447Stop polymorphism of lipoprotein lipase gene and ischemic cerebrovascular disease

目的探求中国人群中脂蛋白脂肪酶(LPL)基因SerStop多态性与缺血性脑血管病(ICVD)的相关性。方法收集112例ICVD患者(短暂性脑缺血发作36例,脑梗死76例)和105名非ICVD患者或健康人为对照,用聚合酶链反应和限制性片段长度多态性分析(PCR-RFLP)的方法来确定其基因型。结果ICVD组和对照组的平均年龄及性别构成没有明显差别。高血压、糖尿病、高血脂和吸烟史等危险因素在ICVD组均明显高于对照组(P值均小于0.05)。ICVD组和对照组的突变+突变纯合子基因型频率分别为0.161和0.391。ICVD组的突变+突变纯合子基因型频率显著低于对照组(P=0.002,OR3.3,95%,CI1.1～7.8)。ICVD亚组间的分析显示,短暂性脑缺血发作与对照组之间突变+突变纯合子基因型频率无明显差别,而脑梗死组与对照组则有显著性差异。结论脂蛋白脂肪酶基因Ser447Stop多态性与ICVD特别是脑梗死有一定的相关性,是缺血性脑血管疾病的一个保护性因素。

Objective To investigate the relationship between the Ser447stop polymorphism of lipoprotein lipase（LPL） gene and ischemic cerebrovascular disease（ICVD） in Chinese population.Methods 112 ICVD patients （36 cases of TIA and 76 cases of cerebral infarction） and 105 control subjects were recruited and the Serdd7Stop polymorphism of LPL gene was analyzed by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）.The measurement data was analyzed statisticly by ttest and enumeration data by chi-squere test.Results The average age of ICVD group and control group （64.92±11.16 and 63.91±11.96,respectively） was of no difference （P=0.523）.The percentage of male between two groups had no significant difference （x^2=0.52,P=0.472）.The history of hypertension,diabetes, hyperlipodemia and smoking in ICVD group were all higher than control group （P〈0.05）.The CG＋GG genotype frequencies in the ICVD group and control group were 0.152 and 0.057,respectively.The prevalence of the CG＋GG genotype was significantly lower in the ICVD patients（P=0.002,0R 3.3,95%,CI 1.1±7.8）. Analysis by ICVD subtypes showed that the CG＋GG genotype frequency was of no difference between TIA and controls but was significantly different between cerebral infarction and controls. Conclusion The Ser447Stop polymorphism of the LPL gene is implicated in the pathogenesis of ICVD and may be a protective factor against the development of ICVD.