载脂蛋白E基因多态性与青年动脉粥样硬化性脑梗死的关系(英文)

The relationship between polymorphism of apolipoprotein Egene and atherosclerotic cerebral infarction in the youth

目的分析载脂蛋白E(ApoE)基因在青年动脉粥样硬化性脑梗死(ACI)患者与正常人群中的分布,探讨这些基因多态性在青年脑梗死发病中的意义。方法ACI患者组:36例ACI患者为中国医科大学附属第二医院神经内科住院患者,男30例,女6例。对照组:自愿健康体检沈阳籍汉族100例,男66例,女34例。用PCR技术检测其ApoE基因多态性,分析等位基因分布及其与血脂、脂蛋白含量的关系。结果(1)ACI组ε3/4型频率、ε2/4型频率和ε4等位基因频率均明显高于对照组(χ2=4.14,5.09,4.48,P<0.05)。(2)ε4等位基因引起血清三酰甘油(TG)、总胆固醇(TC)、脂蛋白(a)犤Lp(a)犦升高及高密度脂蛋白(HDL-C)降低的发病风险率(RR)依次为8.23,4.85,4.39,29.9(χ2=16.0,8.76,7.89,16.7,P<0.01～0.001)。结论ApoE基因多态性影响血脂、脂蛋白代谢;ApoE等位基因ε4与青年ACI关系密切,是一种遗传易感性因子。

Aim To investigate the relationship between polymorphism of apolipoprotein E(Apo E)gene in young adults patients with atherosclerotic cerebral infarction(ACI ).Methods The polymerase chain reaction(PCR)technique was used to study the polym orphisms of ApoE gene and allele frequencies in 36patients with ACI a nd 100healthy controls.The levels o f the lipid and lipoproteins of serum w ere also compared among the cases wit h ACI and the controls.Results The prevalence of theε3/4phenotype,the prevalence of theε2/4phenotype and the frequency of th eε4allele in ACI groups were significantly higher th an the control subjects(χ 2 =4.14,5.09,4.48,P<0.05).ε4was closely related to higher serum level of TG,TC,Lp(a)and lower serum level of HDL-C.Relative risk ofε4and TG,TC,HDL-C,Lp(a)were 8.23,4.85,29.9,4.39(χ 2 =16.0,8.76,16.7,7.89,P<0.01-0.001).Conclusion The ApoE gene polymorphism is in-volved in the occurrence and the development of ACI and affects plasma lip id level;ε4has a more close relationship with y oung adult ACI and is a genetic facilitated factor.