昆明地区汉族人群载脂蛋白E基因多态性频率分布及与高脂血症患者关系的研究

目的探讨ApoE112/158基因中,E3/E3、E2/E3、E2/E4、E3/E4、E4/E4、E2/E2基因型及等位基因频率及其与原发性高脂血症患者的相关性。方法采用病例-对照相关性研究策略,选择昆明地区汉族作为研究对象,对91例高脂血症患者及76例健康对照者进行了上述基因多态性检测。结果 （1）76例健康者中E3/E3、E2/E3、E2/E4、E3/E4、E2/E2基因型频率分别是0.263、0.421、0.237、0.066、0.013,未检出E4/E4基因型;E2、E3和E4等位基因频率分别是0.342、0.506、0.152。（2）91例高脂血症患者中,E3/E3等位基因频率高于对照组,差异有显著性意义（P〈0.001）,Odd Ratio为7.392（95%CI：3.710～14.699）。E2/E3等位基因频率低于对照组,差异有极显著性意义（P〈0.001）,Odd Ratio为0.209（95%CI：0.098～0.446）。而E2/E4、E3/E4基因型频率与对照组比较,差异无显著性意义（P〉0.05）。结论昆明地区汉族健康人群ApoE112/158基因多态性有地区特征。该地区汉族高脂血症患者中的E3/E3基因型与高脂血症的易感性相关,而E2/E3基因型与高脂血症发病保护性可能相关。

Study on the relationship between apolipoprotein E gene polymorphism frequency distribution and primary hyperlipidemia of Han nationality in Kunming area

Objective To investigate the association between the polymorphisms ApoE 112/158 and prima-ry hyperlipidemia.Methods The strategy was case-control association study.91 patients with essential hyper-lipidemia and 76 healthy controls were the Han's living in Kunming.Results(1)In the control group,the fre-quencies of genotypes E3/E3,E2/E3,E2/E4,E3/E4 and E2/E2 were 0.263,0.421,0.237,0.066,0.013,respec-tively,and genotype E4/E4 was not detected.The frequencies of alleles E2,E3 and E4 were 0.342,0.506,0.152,respe...