韩亚军, 王晓明. 西北地区中老年人群ApoE基因分布特征及血脂水平与认知功能障碍的关系[J]. 心脏杂志, 2018, 30(1): 13-16.
    引用本文: 韩亚军, 王晓明. 西北地区中老年人群ApoE基因分布特征及血脂水平与认知功能障碍的关系[J]. 心脏杂志, 2018, 30(1): 13-16.
    Distribution characteristics of the apolipoprotein E gene and the effects of its polymorphism on blood lipid and cognitive dysfunction in the middle-aged and elderly population in Northwest China[J]. Chinese Heart Journal, 2018, 30(1): 13-16.
    Citation: Distribution characteristics of the apolipoprotein E gene and the effects of its polymorphism on blood lipid and cognitive dysfunction in the middle-aged and elderly population in Northwest China[J]. Chinese Heart Journal, 2018, 30(1): 13-16.

    西北地区中老年人群ApoE基因分布特征及血脂水平与认知功能障碍的关系

    Distribution characteristics of the apolipoprotein E gene and the effects of its polymorphism on blood lipid and cognitive dysfunction in the middle-aged and elderly population in Northwest China

    • 摘要: 目的 探讨我国西北地区中老年人群ApoE基因分布特征及其血脂水平与轻度认知障碍(MCI)、阿尔兹海默病(AD)患者发病的关系。方法 以门诊就诊和住院的陕西、甘肃、青海等地区患者为研究对象,根据MCI及AD诊断标准,从中筛查出MCI组120例,AD组64例,正常对照组65例;采用基因芯片法行ApoE基因型测定及血脂检测,并进行统计学分析。结果 本研究中6种基因型均有测出;所选3组人群的ApoE基因型分布符合Hardy-Weinberg遗传平衡定律;3组间的基因型分布E3/E3纯合子频率最高(72.3%),E2/E2型最少(1.5%),其中,MCI组及AD组E3/E4和E4/E4基因型频率明显高于对照组,而E2/E3型则低于对照组(均P<0.05);MCI组与AD组之间的等位基因分布频率差异无显著性;从血脂水平与基因多态性关系上,AD组患者血清TC、LDL-C水平明显增高,与对照组比较,差异有显著性(P<0.05);MCI及AD组患者中ApoEε4基因型TC、LDL-C 水平明显高于ApoEε2基因型(P<0.05),组间对照显示MCI及AD组ApoEε4基因型TC、LDL-C水平均高于对照组(P<0.05),但MCI与AD组ApoEε4基因型TC、LDL-C水平无明显差异。结论 西北地区中老年人群的ApoE基因分布具有一定的地域特性,其人群MCI及AD的患病与ApoE基因的多态性及血脂水平存在一定的关联。

       

      Abstract: AIM To investigate the distribution characteristic of the apolipoprotein (Apo)E gene and the effects of its polymorphism on blood lipids in a middle-aged and elderly population with mild cognitive impairment (MCI) and Alzheimer’s disease (AD) in Northwest China. METHODS According to MCI and AD diagnostic criteria, the present investigation enrolled 120 patients with MCI and 64 patients with AD from Shaanxi, Gansu, Qinghai and other regions treated in the Geriatric Department and Neurology Department of Xijing Hospital, the Fourth Military Medical University along with 65 healthy people who served as a control group and received physical examination in the hospital during the same period. Blood samples of the subjects were collected and serum lipid levels and ApoE gene types were measured. RESULTS Among all subjects, six kinds of genotypes in the population were identified. ApoE allele frequencies and genotype frequencies of the AD patient group, MCI patient group, and the control group were all in line with H-W genetic equilibrium. Among those identified, ApoE E3/E3 had the highest genotype rate (72.3%), and the least was E2/E2 (1.5%). Other genotype frequencies included E3/E4 18.8%, E2/E3 8.4%, E2/E4 9.23%, and E4/E4 6.7%. Genoptype frequencies of ApoE E3/E4 and E4/E4 in the AD and MCI groups were higher when compared to the normal control group (P<0.05) and E2/E3 was lower than the control group (P<0.05). The difference of allele frequency between the MCI and AD groups were not significant. In addition, total cholesterol (TC) and low density lipoprotein-C (LDL-C) in the AD group were higher than those in the normal control group (P<0.05); however, the ε4 carriers had a higher TC level than the ε2 carriers (P<0.05). CONCLUSION The distribution of ApoE gene in middle-aged and elderly population in Northwest China has certain geographical characteristics. The prevalence of MCI and AD in the population is related, in part, to the polymorphism of the apolipoprotein E gene and serum lipid levels.

       

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