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

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

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。

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,respectively.（2）The frequency of E3/E3 in the primary hyperlipidemia group was significantly higher than that in the controls（x2=35.41,P=0.000）,Odd Ratio=7.392,（95% CI：3.710～14.699）.E2/E3 in the patients was signifi-cantly lower than that in the controls（x2=17.85,P=0.000）,Odd Ratio=0.209,（95% CI：0.098～0.446）.There were no significant differences in terms of the frequencies of genotypes or alleles for the genotypes of E2/E4 or E3/E4 between the patients and the controls（P0.05）.Conclusions There are district characteristics in the frequencies of genotypes and alleles for ApoE112/158 in the normal population of Han＇s living in Kunming.The genotypes of ApoE112/158 E3/E3 are associated with the susceptibility to primary hyperlipidemia.The genotypes E2/E3 are related to the protection from essential hyperlipidemia.