ApoE基因多态性与江西地区汉族老年人AD及MCI的相关性研究

发布时间：2018-02-10 22:21

本文关键词： 老年人阿尔茨海默病轻度认知功能障碍 ApoE基因多态性　出处：《南昌大学》2013年硕士论文　论文类型：学位论文

【摘要】：目的: 通过对载脂蛋白E（ApoE)等位基因在江西地区汉族老年人阿尔茨海默病（AD）患者、轻度认知功能障碍（MCI)患者及正常对照人群中分布状况的研究，探讨ApoE基因多态性与江西地区汉族老年人AD和MCI发病的关系。方法: 选取来自2012年02月至07月南昌大学第一附属医院心身医学科门诊的轻度认知功能障碍（mild cognitive impairment，MCI）汉族患者110例与年龄、性别、族别、文化程度、生活背景等相互匹配并确定无血缘关系的同时期门诊健康体检者114例作为研究对象，同时纳入散发性阿尔茨海默病（Alzheimer’sdisease, AD)患者组54例进行对比研究，入组对象均对本研究知情同意。抽取其空腹外周血2ml，EDTA-Na2抗凝，使用血液基因组小量提取试剂盒提取样本DNA，PCR法扩增ApoE基因序列，采用直接测序方法鉴定每个样本ApoE基因的等位基因及基因型。所得数据应用Microsoft Excel及SPPS13.0软件进行相关统计分析，计算出三组ApoE基因等位基因频率和基因型频率，经Hardy-Weinberg遗传平衡定律做吻合度检验，计数资料采用χ~2检验或Fisher确切概率法，计量资料多组比较运用单因素方差分析(ANOVA)检验。检验水准α=0.05，双侧检验。结果: 1、AD患者组、MCI患者组及正常对照组ApoE等位基因频率及基因型频率均符合H-W遗传平衡定律（p0.05）。 2、AD患者组、MCI患者组与正常对照组ApoE基因型均以ε3/3纯合子的比率最高，ε3/4和ε2/3基因型次之，，ε2/4、ε4/4和ε2/2基因型最少；AD组、MCI组及正常对照组之间ApoE基因的基因型比较，差异均无统计学意义（p0.05）。 3、AD患者组ApoEε4等位基因频率为14.81%（16/108），与正常对照组7.89%（18/228）相比有统计学差异（χ~2=3.86，p0.05）；MCI组ApoEε4基因频率为14.09%（31/220），与正常对照组相比差异亦有统计学意义（χ~2=4.41，p0.05)；AD组与MCI组ApoEε4基因频率无显著性差异（p0.05）。三组ApoEε2、ε3等位基因频率两两比较，均未发现差异有统计学意义（p0.05）。 4、与正常对照组比较，ApoEε4等位基因增加AD患病风险（OR=2.029，p=0.049），ε2、ε3等位基因与AD发病的关联无显著性；同样，ApoEε4等位基因与MCI患病呈正关联（OR=1.914，p=0.036），ε2、ε3等位基因与MCI的发病不相关；ApoEε4等位基因在AD的患病与MCI的患病之间无显著相关。结论： 1、证实了ApoEε4等位基因为散发性AD的致病危险因素。 2、江西地区汉族老年人MCI与ApoE基因的多态性存在关联，ApoEε4等位基因可能是MCI患病的致病基因。 3、携带ApoEε4等位基因者患AD的风险是非携带者的2.029倍，携带ApoEε4等位基因者患MCI的风险是非携带者的1.914倍。
[Abstract]:Objective:. The distribution of ApoE allele in the elderly patients with Alzheimer's disease (AD), mild cognitive impairment (MCI) and normal controls was studied. To investigate the relationship between the polymorphism of ApoE gene and AD and MCI in the elderly of Han nationality in Jiangxi province. Methods:. From February 2012 to July, a total of 110 patients with mild cognitive impairment (MCI) from the outpatient department of psychosomatic medicine, first affiliated Hospital of Nanchang University, were selected. One hundred and forty four patients with unrelated outpatient health check-up were selected as subjects, and 54 patients with sporadic Alzheimer's disease (ADD) were enrolled in a comparative study. All of the subjects had informed consent to the study. The anticoagulant activity of EDTA-Na _ 2 from fasting peripheral blood was extracted and the ApoE gene sequence was amplified by using a small amount of blood genome extraction kit. The alleles and genotypes of ApoE gene in each sample were identified by direct sequencing. The alleles and genotypes of three groups of ApoE genes were calculated by Microsoft Excel and SPPS13.0 software. The Hardy-Weinberg genetic balance law was used to test the degree of coincidence. The counting data were tested by 蠂 ~ 2 test or Fisher exact probability method. The multigroup analysis of variance (ANOVA) test was used to measure the data. Results:. 1the allele frequency and genotype frequency of ApoE in AD patients and normal controls were in accordance with H-W genetic balance law (p0.05). 2The ratio of 蔚 3/3 homozygote to 蔚 3/3 genotype was the highest in AD patients group and normal control group, followed by 蔚 3/4 and 蔚 2/3 genotype, and there was no significant difference in ApoE genotype between AD group and normal control group (蔚 2 / 4, 蔚 4/4 and 蔚 2/2). 3The frequency of ApoE 蔚 4 allele in AD group was 14.81% 16 / 108, which was significantly higher than that in normal control group (7.89 / 18 / 228) (蠂 ~ (23.86) p 0.05). There was no significant difference in ApoE 蔚 _ 4 gene frequency between AD group and MCI group (P < 0.05). There was no significant difference in ApoE 蔚 _ 4 gene frequency between AD group and MCI group. The allele frequencies of ApoE 蔚 2, 蔚 3 in three groups were compared. No significant difference was found between the two groups (P 0.05). 4Compared with the normal control group, the allele ApoE 蔚 4 increased the risk of AD. There was no significant correlation between ApoE 蔚 4 allele, 蔚 2, 蔚 3 allele and AD. Similarly, the ApoE 蔚 4 allele was positively correlated with the prevalence of MCI. There was no significant correlation between the ApoE 蔚 4 allele and the incidence of MCI. Conclusion: there is no significant correlation between the ApoE 蔚 4 allele and the prevalence of MCI. 1. It was confirmed that ApoE 蔚 4 allele was a risk factor for sporadic AD. 2. The polymorphism of MCI and ApoE gene is associated with ApoE 蔚 4 allele, which may be the pathogenic gene of MCI. 3The risk of AD was 2.029 times higher in patients with ApoE 蔚 4 allele and 1.914 times higher in those with ApoE 蔚 4 allele.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R749.16

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