生物标志物 生物标志物
Snehal Pandya1, Matteo De Marco1, Annalena Venneri1,2
1Brunel University London, London, United Kingdom.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
阿尔茨海默病 (AD) 的多基因风险评分 (PRS) 与大脑结构变化有关,特别是在海马和杏仁体. 通过识别特定的大脑体积变化,PRS可能有助于诊断AD.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 医疗成像医学成像
背景情况:
- 散发性阿尔茨海默病 (AD) 占病例的90%以上,遗传因素起着重要作用.
- 调查多基因风险评分 (PRS) 提供了对影响AD相关大脑变化的基因相互作用的见解.
- 了解AD的遗传贡献对于开发有效的诊断和治疗策略至关重要.
研究的目的:
- 为了检查阿尔茨海默病 (AD) 的多基因风险评分 (PRS) 和区域灰质体积之间的关联.
- 探索PRS如何结合或排除APOE,与不同参与者群体的大脑结构有关.
- 确定PRS作为AD诊断生物标志物的潜力.
主要方法:
- 利用了阿尔茨海默病神经成像计划 (ADNI) 738 名参与者的数据.
- 使用三个不同的单核酸多态 (SNP) 值,构建了两组PRS (PRSwithAPOE和PRSwithoutAPOE).
- 处理T1加权的MRI扫描以提取114个感兴趣的大脑区域的体积,使用SPM12.
主要成果:
- 包括APOE在内的PRS (PRSwithAPOE) 与所有参与者的双边海马和杏仁体体积相关.
- 分层分析揭示了PRS与APOE的关联,在认知不受损,MCI和AD群体中具有特定的区域体积.
- 粉样蛋白阳性个体表现出PRSwithAPOE与海马,杏仁体和中回形体积的关联.
结论:
- 阿尔茨海默病的多基因风险评分与该疾病特征的区域灰质体积有关.
- 包括APOESNP显著影响了PRS和大脑结构之间的观察到的关联.
- PRS,特别是PRSwithAPOE,可以作为一个有价值的工具来区分AD患者与那些轻度认知障碍或正常认知.
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