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阿尔茨海默病神经影像学计划研究中APOE基因多态性与认知障碍风险的横断面分析

A Cross-Sectional Analysis of APOE Gene Polymorphism and the Risk of Cognitive Impairments in the Alzheimer's Disease Neuroimaging Initiative Study.

作者信息

Wang G, Vance D E, Li W

机构信息

Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Office of Research and Scholarship, School of Nursing, University of Alabama at Birmingham, Birmingham, Alabama.

出版信息

JAR Life. 2021 Apr 26;10:26-31. doi: 10.14283/jarlife.2021.5. eCollection 2021.

Abstract

BACKGROUND

It is inconclusive on how apolipoprotein epsilon (APOE) gene polymorphism is associated with the risk of having mild cognitive impairment (MCI) or Alzheimer's disease (AD).

OBJECTIVES

To investigate how APOE genotype is associated with the risk of MCI or AD using the data collected from the Alzheimer's Disease Neuroimaging Initiative (ADNI) participants.

METHODS

A cross-sectional design was used to analyze the baseline data collected from the 1,720 ADNI participants. APOE gene polymorphism was analyzed on how they are related to the risk of cognitive impairments of either MCI or AD using a percent yield (PY) method. Then cognitive functions were compared among six different APOE genotypes using a two-way ANCOVA by controlling possible confounding factors.

RESULTS

The prevalence of six APOE genotypes in 1,720 participants is as following: e2/e2 (0.3%), e2/e3 (7.4%), e3/e3 (45.4%), e2/e4 (2%), e3/e4 (35%) and e4/e4 (9.9%). The e2/e2 and e4/e4 genotypes were associated with the lowest and the highest risk respectively for cognitive impairments of either MCI or AD. Further, a worse cognitive diagnosis was associated with an increasing number of APOE e4 allele in a dose dependent manner. Participants with genotype e3/e3 had a better memory measure than those with the genotype of e3/e4.

CONCLUSIONS

APOE gene polymorphism is associated with different level of risks for cognitive impairments. The heterozygous genotype e3/e4 is associated with a worse memory function compared to the genotype of e3/e3. Further investigations are needed to intervene the cognitive deteriorations in those with at risk APOE genotypes.

摘要

背景

载脂蛋白ε(APOE)基因多态性与轻度认知障碍(MCI)或阿尔茨海默病(AD)风险之间的关联尚无定论。

目的

利用从阿尔茨海默病神经影像倡议(ADNI)参与者收集的数据,研究APOE基因型与MCI或AD风险之间的关联。

方法

采用横断面设计分析从1720名ADNI参与者收集的基线数据。使用百分产量(PY)方法分析APOE基因多态性与MCI或AD认知障碍风险的关系。然后通过控制可能的混杂因素,使用双向协方差分析比较六种不同APOE基因型的认知功能。

结果

1720名参与者中六种APOE基因型的患病率如下:e2/e2(0.3%)、e2/e3(7.4%)、e3/e3(45.4%)、e2/e4(2%)、e3/e4(35%)和e4/e4(9.9%)。e2/e2和e4/e基因型分别与MCI或AD认知障碍的最低和最高风险相关。此外,认知诊断越差与APOE e4等位基因数量增加呈剂量依赖性相关。基因型为e3/e3的参与者的记忆测量结果优于基因型为e3/e4的参与者。

结论

APOE基因多态性与认知障碍的不同风险水平相关。与e3/e3基因型相比,杂合基因型e3/e4与较差的记忆功能相关。需要进一步研究干预具有APOE风险基因型者的认知衰退。

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Role of apolipoprotein E in neurodegenerative diseases.载脂蛋白E在神经退行性疾病中的作用。
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