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单核苷酸多态性与轻度认知障碍患者向阿尔茨海默病转化过程中的认知衰退相关。

Single-nucleotide polymorphisms are associated with cognitive decline at Alzheimer's disease conversion within mild cognitive impairment patients.

作者信息

Lee Eunjee, Giovanello Kelly S, Saykin Andrew J, Xie Fengchang, Kong Dehan, Wang Yue, Yang Liuqing, Ibrahim Joseph G, Doraiswamy P Murali, Zhu Hongtu

机构信息

Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.

Department of Psychology and Neuroscience, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

出版信息

Alzheimers Dement (Amst). 2017 Apr 23;8:86-95. doi: 10.1016/j.dadm.2017.04.004. eCollection 2017.

DOI:10.1016/j.dadm.2017.04.004
PMID:28560309
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5440281/
Abstract

INTRODUCTION

The growing public threat of Alzheimer's disease (AD) has raised the urgency to quantify the degree of cognitive decline during the conversion process of mild cognitive impairment (MCI) to AD and its underlying genetic pathway. The aim of this article was to test genetic common variants associated with accelerated cognitive decline after the conversion of MCI to AD.

METHODS

In 583 subjects with MCI enrolled in the Alzheimer's Disease Neuroimaging Initiative (ADNI; ADNI-1, ADNI-Go, and ADNI-2), 245 MCI participants converted to AD at follow-up. We tested the interaction effects between individual single-nucleotide polymorphisms and AD diagnosis trajectory on the longitudinal Alzheimer's Disease Assessment Scale-Cognition scores.

RESULTS

Our findings reveal six genes, including , , , , , and , which are directly or indirectly related to MCI conversion to AD.

DISCUSSION

This genome-wide association study sheds light on a genetic mechanism of longitudinal cognitive changes during the transition period from MCI to AD.

摘要

引言

阿尔茨海默病(AD)对公众的威胁日益增加,这凸显了量化轻度认知障碍(MCI)向AD转化过程中认知衰退程度及其潜在遗传途径的紧迫性。本文旨在测试与MCI转化为AD后加速认知衰退相关的常见基因变异。

方法

在阿尔茨海默病神经影像学倡议(ADNI;ADNI-1、ADNI-Go和ADNI-2)登记的583名MCI受试者中,245名MCI参与者在随访时转化为AD。我们测试了个体单核苷酸多态性与AD诊断轨迹对纵向阿尔茨海默病评估量表-认知得分的交互作用。

结果

我们的研究结果揭示了六个基因,包括 、 、 、 、 和 ,它们直接或间接与MCI转化为AD相关。

讨论

这项全基因组关联研究揭示了从MCI到AD过渡期纵向认知变化的遗传机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/6554087c5152/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/aeac756b66ae/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/6af4ee875ac8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/fe1d5d314f48/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/9aa87b31a77d/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/6554087c5152/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/aeac756b66ae/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/6af4ee875ac8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/fe1d5d314f48/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/9aa87b31a77d/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5c4/5440281/6554087c5152/gr5.jpg

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2
Hippocampal transcriptome-guided genetic analysis of correlated episodic memory phenotypes in Alzheimer's disease.阿尔茨海默病中基于海马转录组引导的相关性情景记忆表型的基因分析。
Front Genet. 2015 Mar 26;6:117. doi: 10.3389/fgene.2015.00117. eCollection 2015.
3
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4
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5
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6
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7
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5
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7
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