血管性痴呆患者与载脂蛋白E基因多态性关系的配对分组实验

背景载脂蛋白E是血浆主要载脂蛋白之一,具有多形性,参与机体脂质代谢及调节胆固醇平衡,同时参与神经系统的正常生长和损伤后的修复过程.目的对血管性痴呆患者的载脂蛋白E基因多态性进行分析,并与脑梗死、健康者进行对照,探讨载脂蛋白E基因多态性与血管性痴呆的关系.设计病例-对照实验.单位解放军济南军区总医院神经内科.对象选择2001-08/2003-10解放军济南军区总医院门诊或住院的脑血管病患者以及健康查体者,包括35例血管性痴呆患者,36例脑梗死患者,以及40例健康者.方法全部受检者禁食12 h后,采取肘静脉血4 mL,应用聚合酶链反应-限制性片段长度多态性技术,检测35例血管性痴呆患者、36例脑梗死患者以及40例健康人的载脂蛋白E基因型,同时检测其血脂及载脂蛋白的含量.主要观察指标①所有被检者的载脂蛋白E等位基因频率.②不同载脂蛋白E等位基因的血管性痴呆患者三酰甘油、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和载脂蛋白A以及载脂蛋白B水平.结果35例血管性痴呆患者、36例脑梗死患者以及40例健康对照者血样均进入结果分析.①血管性痴呆组和脑梗死组患者ε 4频率均高于对照组(22.86%,22.22%,7.5%,P＜0.01),ε3频率均低于对照组(70%,69.45%,86.25%,P＜0.05),而两组患者间各等位基因频率基本一致(P＞0.05).②血管性痴呆患者载脂蛋白Eε4等位基因携带者三酰甘油、低密度脂蛋白胆固醇、载脂蛋白B水平均较载脂蛋白E ε2,ε3携带者高[(5.85±1.03),(4.73±0.29),(4.96±0.87)mmol/L;(3.91±0.87),(3.12±0.65),(3.06±0.33)mmol/L;(1.34±0.21),(1.00±0.28),(0.94±0.32)g/L,(P＜0.05)].结论载脂蛋白E基因多态性与血管性痴呆的发病有关,ε4基因可能为该病的危险因子,且可能与其在脑梗死中的作用相似.

Relationship between vascular dementia and apolipoprotein E gene polymorphism: a case-control study

BACKGROUND:Apolipoprotein E is one of the important plasma apolipoproteins with polymorphism and involved in lipid metabolism and cholesterol balance modulation, playing also a role in the normal growth and repair of the nervous system.OBJECTIVE: To analyze apolipoprotein E gene polymorphism in patients with vascular dementia (VaD) in comparison with patients with cerebral infarction (CI) patients and healthy controls, so as to elicit the relationship between apolipoprotein E gene polymorphism and VaD.DESIGN: Case-control study.SETTING: Department of Neurology, General Hospital of Jinan Military Area Command of Chinese PLA.PARTICIPANTS: The participants were recruited from the inpatients and outpatients with cerebrovascular diseases and healthy subjects for routine physical examination in the General Hospital of Jinan Military Area Command of Chinese PLA between August 2001 and October 2003, including 35 cases of VaD, 36 CI cases and 40 healthy controls.METHODS: Four milliliters of venous blood was collected from the elbow vein form all participants after fasting for 12 hours for detection of apolipoprotein E genotype using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Blood lipids and apolipoprotein contents were also examined.of triglyceride, total cholesterol, high-density lipoprotein cholesterol (HDLC), low-density lipoprotein cholesterol (LDL-C), as well as apolipoprotein A and aoplipoprotein B.RESULTS: Data of 35 VaD 36 CI patients and 40 healthy controls were all VaD group and CI group had higher ε4 allele frequency were higher (22.86% and 22.22% vs 7.5%, respectively, P ＜ 0.05) but lower ε3 allele frequency (70% and 69.45% vs 86.25%, respectively, P ＜ 0.05); the frequencies of all alleles were basically comparable between VaD and CI groups er in E ε4 allele carriers [(5.85±L03), (4.73±0.29), (4.96±0.87) mmol/L, respectively] than in E ε2 [(3.91±0.87), (3.12±0.65), (3.06±0.33) mmol/L] and ε3 [(1.34±0.21), (1.00±0.28), (0.94±0.32) g/L] allele carriers in VaD group (P ＜ 0.05).CONCLUSION: Apolipoprotein E gene polymorphism is closely associated with the onset of VaD, for which ε4 allele might be a risk factor with similar impact in CI.