相关实验视频

Updated: Sep 10, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

缺血性中风风险单核多态与阿尔茨海默病之间的关联分析

Wei Dong¹, Wei Wang¹, Mingxuan Li¹

¹Cerebrovascular Disease Department, Neurological Disease Center, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.

Bioengineering (Basel, Switzerland)

|August 28, 2025

概括

与缺血性中风风险相关的遗传变异与阿尔茨海默病风险和严重程度有关. 这项研究突出了IS和AD之间共同的遗传因素,提供了新的预测见解.

科学领域:

神经科学
遗传学
神经学

背景情况:

阿尔茨海默病 (AD) 和缺血性中风 (IS) 经常同时发生,共享风险因素和致病机制.
艾滋病风险与阿尔茨海默氏症之间的遗传重叠需要进一步研究,特别是关于特定的基因多态性.
了解共同的遗传基础可以揭示疾病的发展路径,并确定新的治疗点.

研究的目的:

研究与缺血性中风风险和阿尔茨海默病风险和严重程度相关的单核酸多态 (SNP).
探索IS风险SNP与阿波利波蛋白E (ApoE) ε4状态与AD风险之间的相互作用.
来识别IS风险基因中的遗传标志物,这些基因可以作为AD的预测因素.

主要方法:

使用阿尔茨海默病神经成像计划 (ADNI) 队列的数据,包括阿尔茨海默病患者和正常对照.
从大型全基因组关联研究 (GWAS) 的元分析中确定了IS风险SNP.
对AD风险,脑脊液 (CSF) 生物标志物 (Aβ42,t-tau,p-tau181) 和神经成像数据 (海马体,全脑,脑内皮层,中体) 进行了基于SNP的关联分析.
使用通用多因素缩小 (GMDR) 来评估IS风险SNP和ApoE之间的相互作用.
使用STRING数据库探索蛋白质与蛋白质相互作用 (PPI).

主要成果:

在七种研究的IS风险SNP中,有五种与AD风险指标相关,包括脑脊液生物标志物水平和大脑体积.
在没有ApoE ε4等位基因的个体中,SNP rs1487504的T等位基因与AD风险增加有关.
确定rs1487504和ApoE ε4之间的显著相互作用是预测AD风险的最佳模型.
在AD患者中,SNP rs880315 (C等位基因) 与较高的脑脊液Aβ42水平有关,SNP rs10774625 (A等位基因) 与脑内皮层体积减少有关.

结论:

缺血性中风风险SNP与发展阿尔茨海默病的风险和关键AD生物标志物显著相关.
这些发现为IS和AD之间的关系提供了遗传视角,突出了共同的遗传因素.
存在风险的SNP代表了开发阿尔茨海默病创新预测模型的潜在途径.

关键词:

阿尔茨海默病生物标志物遗传学缺血性中风神经图像单核酸多态性

更多相关视频

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke

Motor and Hippocampal Dependent Spatial Learning and Reference Memory Assessment in a Transgenic Rat Model of Alzheimer's Disease with Stroke

Published on: March 22, 2016

相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Alzheimer's Disease: Overview

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...