有冠心病家族史儿童载脂蛋白E基因多态性的研究

Apolipoprotein E polymorphism in children with family of coronary heart disease

目的 探讨有冠心病 (CHD)家族史儿童载脂蛋白 (apo)E基因多态性的分布及其对血脂、脂蛋白、apo的影响。方法 采用改良的聚合酶链式反应 限制性片段长度多态性方法 ,分析 83例有CHD家族史的儿童和 2 82例无CHD家族史的儿童apoE基因型。结果 与无CHD家族史的儿童比较 ,有CHD家族史儿童apoε4等位基因频率较高 (分别为 6 .0 %、15 .7% ,P <0 .0 1)。早发CHD家族史的儿童ε4等位基因频率较非早发及无CHD家族史儿童为高 ,三组之间的ε4等位基因频率差异有显著性 (分别为 18.3%、14.8%、6 .0 % ,P <0 .0 5 )。apoE基因多态性对有CHD家族史儿童的血脂水平有影响 ,ε2、ε3、ε4等位基因携带者的血总胆固醇 (TC)、低密度脂蛋白 -胆固醇 (LDL C)、脂蛋白 (a)、apoB10 0、apoE浓度有差异 (P <0 .0 5 ) ;与ε3等位基因携带者比较 ,ε4具有较高的血TC、LDL C、apoB10 0水平和较低的apoAⅠ、apoE水平 ;ε2等位基因携带者的血TC、LDL C和脂蛋白 (a)水平较低 (P <0 .0 5 )。结论有CHD家族史儿童apoE基因多态性与其他儿童不同 。

Objective To investigate the distribution of apolipoprotein (apo)E polymorphism and affection of apoE genotypes on plasma lipids in children with family of coronary heart disease(CHD). Methods apoE genotypes in 83 with and 282 without family of CHD were determined by polymerase chain reaction restricted fragments length polymorphism. Results Compared with control group, the frequency of apoε4 allele was higher in children with family of CHD. It was significantly highest among the children whose parents or grandparents at 45 years of age or younger with CHD, the other children of this group and the children of control group. ApoE polymorphisms may affected plasma lipids metabolism in those healthy children with family of CHD. The levels of total cholesterol (TC), low density lipoprotein cholesterol(LDL C), lipoprotein (a),apoB100, apoE had difference among carrier with apoε2, ε3, ε4 alleles. The children with apo ε4 allele had higher levels of TC, LDL C, apoB100, and lower levels of apoAI?apoE than those with apoε3 alleles. The children with apoε2 allele had lower levels of TC, LDL C and lipoprotein( a). Conclusion There is abnormality of apoE polmorphisms in children with family of CHD, which may affect plasma lipoproteins metabolism.