云南大理白族脑梗死患者载脂蛋白E基因多态性研究

目的 探讨云南大理白族人群载脂蛋白E(apolipoprotein E,ApoE)基因多态性与脑梗死的相关性.方法 纳入40例大理白族脑梗死患者(男性17例,女性23例)和43例性别、年龄相匹配的大理白族正常对照组(男性25例,女性18例),运用聚合酶链反应-限制性片段长度多态性分析检测ApoE基因型,同时检测血脂水平,最后进行ApoE基因测序,进一步研究ApoE基因多态性与脑梗死类型的关系.结果 云南大理白族脑梗死组ε3/ε4基因型频率(22.5%对4.7%,P＜0.05)和ε4等位基因频率(12.5%对3.5%,P＜0.05)均显著高于白族对照组,而ε3/ε3基因型频率则显著低于白族对照组(60.0%对74.4%,P＜0.01).不司脑梗死类型患者ε4等位基因携带频率不同,动脉粥样硬化血栓形成性脑梗死和腔隙性脑梗死存在显著差异(55.3%对25.0%,P＜0.05).ε4等位基因携带者总胆固醇(total cholesterol,TC)和低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C)显著高于其他基因组(P＜0.05).结论 白族人群ApoE基因多态性与脑梗死密切相关,ε4等位基因是脑梗死的易感基因之一.在各种脑梗死亚型中,ε4等位基因与动脉粥样硬化血栓形成性脑梗死显著相关,而与腔隙性脑梗死无显著相关性.ε4等位基因与升高血清TC和LDL-C水平有关,而ε2等位基因则与TC和LDL-C水平降低有关.

Apolipoprotein E gene polymorphism in patients with cerebral infarction in Dali Bai populations in Yunnan province

Objective To investigate the correlation between apolipoprotein E (ApoE)polymorphisms and cerebral infarction in Dali Bai populations in Yunnan province.Methods A total of 40 Dali Bai patients with cerebral infarction (female.23,male 17) and 43 Dali Bai normal controls (female 18,male 25) were included in the study.Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) analysis was used to detect APoE genotype,meanwhile the lipid levels were detected,and finally,ApoE gene sequencing was conducted.The correlation between the APoE gene polymorphism and the types of cerebral infarction were further studied.Results The frequencies of genotype ε3/ε4 (22.5% vs.4.7%,P ＜0.05) and ε4 (12.5% vs.3.5%,P ＜0.05) in the Dali Bai cerebral infarction group were significantly higher than those in Dali Bai normal control group,and the frequencies of genotype