中青年动脉粥样硬化性脑梗死与载脂蛋白E、B基因多态性关系探讨

The Relationship Between Polymorphism of Apolipoprotein E,B Gene and Atherosclerotic Cerebral Infarction in Young Adults

目的 :探讨载脂蛋白E(apolipoproteinE ,ApoE)和载脂蛋白B(ApoB)基因多态性与中青年动脉粥样硬化性脑梗死 (atheroscleroticcerebralinfarction ,ACI)的相关关系。方法 :用PCR技术检测了 10 0名健康中青年人和36例中青年ACI病人的ApoE和ApoB基因多态性及血脂、脂蛋白和载脂蛋白的含量。 结果 :(1)ACI组ε 3/ 4型频率为 36 .1% ,ε 2 / 4型频率为 2 7.7% ,对照组为 12 %、7% ,差异显著 (P均 <0 .0 5 ) ;ε 4等位基因频率为 0 .32 ,明显高于对照组。 (2 )ACI组甘油三酯 (TG)、总胆固醇 (TC)、脂蛋白a[lipoproteina,Lp(a) ]含量明显高于对照组 ,高密度脂蛋白胆固醇 (HDL C)含量显著低于对照组 (P <0 .0 0 1) ;ε 4等位基因与血清TG、TC、HDL C、Lp(a)含量显著相关 ,发病风险率 (relativerisk ,RR)依次为 8.2 3,4.85 ,2 9.9,4.39(P <0 .0 1～ 0 .0 0 1)。 (3)ApoB基因XbaⅠX+ X-型频率ACI组为 14.7% ,高于对照组 (P <0 .0 5 ) ;X+ X-亚组的ApoAⅠ明显低于X-X-亚组 (P <0 .0 2 5 )。(4 )ACI病人中ε 4等位基因与X-X-基因并存时ACI的RR为 2 .85 (P >0 .0 5 )。结论 :ApoE等位基因ε 4是中青年ACI的一种遗传易感性因子 ;ApoBXbaⅠX+ X-可能是另一种遗传标记 ;ε 4与X-X-并存时与中青年ACI的关系需进一步研究。

Objective: Our aim was to investigate the relationship between the gene polymorphism of ApoE,ApoB,and young adult patients with atherosclerotic cerebral infarction(ACI). Methods: The gene polymorphism of ApoE and ApoB ,serum lipid, lipoprotein and apolipoprotein were examined in 100 healthy young adults and 36 young adult patients with ACI by using PCR technique. Results: In ACI group, type ε 3/4 counted for 36.1%, and type ε 2/4 counted for 27.7 %. The gene frequency of ε 4 was 0.320. All these values were higher than those of the control group( P <0.05).The levels of TG,TC,and Lp(a) in ACI group were higher than those in the control group while the level of HDL-C was much lower than that of the control group( P <0.001). The allele ε 4 had close association with TG,TC,HDL-C,Lp(a)(RR:8.23, 4.85,29.9, 4.39, P <0.01～0.001). The gene frequency of ApoB X +X - was 14.7% in ACI group, which was higher than that of the control group( P <0.05). ApoA I in X +X - group was remarkably lower than that in the control group( P <0.025).The RR of ACI was 2.85 with the coexistence of allele ε 4 and X -X - in patients with ACI( P >0.05). Conclusion: Allele ε 4 is a genetic facilitated factor of young adults with ACI. ApoB X +X - may be another genetic symbol.