江苏汉族人群心脑血管病患者载脂蛋白E基因研究

DNA Sequencing research on apolipoprotein E polymorphism in Jiangsu with cardiovascular and cerebrovascular disorders

目的:探讨用基因测序法检测载脂蛋白E(ApoE)基因多态性及其与心脑血管疾病之间的关系。方法:应用基因测序方法检测了193例心脑血管疾病患者和100例无血缘关系的健康汉族人群ApoE基因型。结果:ε3/3基因型高血压组频率为64.3%,高血压+冠心病组为57.7%,高血压+脑血管病组为62.2%均明显低于对照组的86%(P<0.05);而ε3/4基因型频率,高血压组为21.4%,高血压+冠心病组为19.2%,高血压+脑血管病组为24.4%,均显著高于对照组的6%(P<0.05);ε4/4基因型高血压+冠心病组频率为5.1%明显高于对照组0%(P<0.05)。分析等位基因频率,高血压组和高血压+冠心病组、高血压+脑血管病组ε3等位基因频率分别为80.7%,74.4%和78.9%,明显低于对照组92.5%(P<0.05),ε4等位基因频率分别为12.1%,16.7%和14.5%,明显高于对照组的3.5%(P<0.05),差异有明显统计学意义。两组间其它各基因型无统计学差异。结论:应用基因测序方法进行ApoE基因分型是最全面、最直接、可靠的方法;ε4等位基因是心脑血管疾病共同的遗传易患因子,而ε3等位基因具有保护作用。

Objective： To investigate the relationship between polymorphism of apolipoprotein （apo）E gene and cardiovascular disease and cerebrovascular disorders with DNA Sequencing. Methods：DNA Sequencing was used to detect apolipoprotein E genitype between 193 patients with cardiovascular and cerebrovascular disease and 100 case of normal controls. Results： The ApoEε3/3 genotype frequency in the hypertension group,the hypertension and coronary heart disease （CHD）group,the hypertension and cere brovascular disorders group were lower than that in the control group （0.643,0.577,0.622 versus 0.86, P 〈 0.05）,Theε3allele frequency between the three groups and the controls were 0.807,0.744,0.788 versus 0.925 （P 〈 0.05）.While ε4/3 genotype frequency and ε4 allele frequency in patients were significantly higher than in controls （0.214,0.192,0.244 versus0.06 P〈 0.05 and 0.121,0.167,0.145 versus 0.035 P 〈 0.05） ,ε414 genotype frequency in the hypertension and CHD group was higher than in controls （0.05versus 0,P 〈 0.05）. There are no different of the frequencies of ε2/3 , ε2/4,ε/2 genotype and ε2 allele in patients and in controls. Conclution：DNA Sequencing used for the detection of ApoE genotype was the most overall, directly and reliable method.ApoEε4 allele is the genetic marker of cardiovascular and cerebrovascular disorders ,while E3 allele is a protective factor to the over severe disease.