载脂蛋白E基因多态性、内含子1基因多态性与血脂代谢关系的研究

Association of apolipoprotein E and its intron enhancer gene polymorphism with serun lipids level

目的探讨载脂蛋白E基因(ApoE)及其内含子1增强子元件(IE1)基因多态性与血脂代谢的关系。方法采用聚合酶联反应及限制性片段长度多态性分析法测定120例冠心病(CHD)患者及120例健康对照者的ApoE基因型及IE1基因型,血脂测定采用酶法。结果①CHD组ε4等位基因的TC显著高于同组其他基因型,也显著高于对照ε4基因型。②CHD组G/G基因型的血清总胆固醇高于同组的G/C基因型及C/C基因型,也高于对照组G/G基因型(P<0.05)。③CHD组含等位基因ε4的各增强子基因型TC均高于非ε4组,同时G/G型的低密度脂蛋白水平高于同组G/C和C/C型,也显著高于非ε4的G/G型、G/C型、C/C型(P<0.01)。结论①ε4携带者及IE1的G/G基因型为血脂代谢紊乱的遗传因子。②当ε4携带者的IE1为G/G基因型及G等位基因时其发生血脂代谢紊乱的危险性尤为明显。

Objective To investigate the relationship of apolipoprotein E （APOE） gene and its intron 1 enhancer （IE1） polymorphism with serum lipids.Methods Polymerase chain reaction and technique of restriction fragment length polymorphism were used to determine the genotypes of ApoE and its intron 1 enhancer in 120 patients with CHD and 120 health control subjects.Results ①The TC level in CHD patients with ε4 allele was significantly higher than that in other CHD patients, and was significantly higher than that in ε4 allele of control group. ②The serum TC level in G/ G genotype CHD patients was significantly higher than that in patients with G/C genotype or in C/C genotype within the CHD group. It was also higher than that in subjects with G/G genotype of the control group （P〈0.05）. ③The low density lipoprotein （LDL） level in patients with ε4 allele and G/G genotype was significantly higher than that either in G/C genotype or in C/C genotype ,also higher than that in subjects without ε4 allele （P〈0.01）. Conclusion ① ε4 allele carriers along with G/G genotype of IE1 are the hereditary factors for disturbance of blood lipids. ②It is more possible to have lipids disturbance when a person is ε4 carrier with G/G genotype of IE1 or G allele.