轻度认知功能障碍患者ApoE基因多态性相关性分析  

Correlation analysis of ApoE gene polymorphism in patients with mild cognitive impairment

作　　者：孙薇[1] 张倩[1] 杨建波[1] 徐金凤[1] 林晓静[1] 魏建刚[1] 张小宁[1] 江泓[2,3,4,5] 

机构地区：[1]新疆医科大学附属中医医院脑病二科,乌鲁木齐830000 [2]中南大学湘雅医院神经内科,长沙410008 [3]神经退行性疾病湖南省重点实验室,长沙410008 [4]中南大学医学遗传学实验室,长沙410008 [5]中南大学湘雅医院国家老年疾病临床医学研究中心,长沙410008

出　　处：《中国医师杂志》2018年第1期38-41,共4页Journal of Chinese Physician

基　　金：新疆维吾尔自治区自然科学基金青年基金项目(2015211C158)~~

摘　　要：目的研究轻度认知功能障碍患者19号染色体的载脂蛋白E(ApoE)基因多态性的相关性。方法随机选取2015年1月至2016年6月期间新疆医科大学附属中医医院门诊、住院或社区年龄在60～85岁的患者进行认知功能评定,选取轻度认知功能障碍(MCI)患者100例为观察组,另选取139例认知功能正常者为对照组。对所有患者抽血进行ApoE基因检测,通过SNP位点不同基因型比较和ApoE等位基因分布比较,分析其相关性。最终数据采用pearsonχ~2检验进行统计学分析。结果与对照组比较,观察组患者rs429358位点等位基因型分布上T/T型出现比例低于对照组,而T/C、C/C型高于对照组,等位基因C为MCI患病危险因素(OR值=2.100),ε4等位基因明显高于对照组,ε3等位基因明显高于对照组,且差异均有统计学意义(P<0.05)。结论 ApoE基因的多态性与MCI发病存在关联,其中ApoEε4等位基因可能为MCI的风险基因,这提示ApoE基因多态性检测有可能为MCI的早期诊断提供有用信息。Objective To investigate the association of apolipoprotein E （ApoE） gene polymor- phism in patients with mild cognitive impairment. Methods The patients aged 60 - 85 years were random- ly selected from the outpatient, hospital or community age of Xinjiang Medical University Affiliated Hospital of traditional Chinese medicine in January 2015-June 2016, and cognitive function assessment for the pa- tients. A total of 100 cases of mild cognitive impairment （MCI） patients were selected as case group, and 139 cases with normal cognitive function were the control group. The polymorphism of ApoE gene was ana- lyzed in all patients. The final data were analyzed by Pearson chi square test. Results Compared to the control group, the proportion of genotype T/T in the genotype distribution of rs429358 loci was lower than that of the control group, T/C and C/C were higher than those in the control group, Allele C was a risk fac- tor for MCI disease （ OR value = 2. 100）. The epsilon 4 allele was significantly higher than that of the con- trol group, and the epsilon 3 allele was significantly higher than that of the control group （P 〈 0. 05 ）. Con-clusions The polymorphism of the ApoE gene is associated with the pathogenesis of MCI, in which the ApoE-E4 allele may be a risk gene for MCI. This suggests that the detection of ApoE gene polymorphism may provide useful information for the early diagnosis of MCI.

关 键 词：认知障碍/遗传学 载脂蛋白E类/遗传学 多态性 单核苷酸 

分 类 号：R749.1[医药卫生—神经病学与精神病学]