生物标志物 生物标志物
Yuexuan Xu1, Min N Qiao2,3, Tamil Iniyan Gunasekaran4
1Columbia University, New York, NY, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
对粉样蛋白沉积的多基因风险评分 (PRS) 在预测风险较高的欧洲人和西班牙裔个体的早期阿尔茨海默病 (AD) 病理学方面表现有希望. 这些遗传工具为早期AD检测提供了超出APOE基因型的新途径.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物标志物 生物标志物
背景情况:
- 早期识别阿尔茨海默病 (AD) 风险对于干预至关重要.
- 粉样蛋白沉积是阿尔茨海默病的一个关键标志,受到APOE等遗传因素的影响.
- 其他遗传变异在粉样化和早期AD内类型中的作用需要进一步调查.
研究的目的:
- 开发和验证粉样蛋白多基因风险评分 (PRS) 以预测欧洲人和西班牙裔的粉样蛋白负担,独立于APOE.
- 为了比较粉样蛋白PRS与APOE,AD风险PRS和tau PETPRS的预测性能.
- 评估这些PRS与非痴呆老年人的AD内类型之间的关联.
主要方法:
- 使用全基因组关联研究 (GWAS) 构建了粉样蛋白PET,血和CSF p-tau,以及AD和tau PET风险PRS.
- 对于西班牙裔人来说,PRS是使用血p-tau181的GWAS和将当地祖先纳入的GAUDI方法衍生出来的.
- 使用PRS-CSx建立了多祖先的PRS. 所有的PRS都测试了与血生物标志物 (p-tau181,p-tau217,Aβ42,Aβ42/Aβ40,GFAP,NfL) 的关联以及欧洲和西班牙裔队列的全球认知.
主要成果:
- APOE-ε4解释了欧洲人的p-tau181和p-tau217的变异性,而粉样蛋白-PET GWAS衍生的PRS显示了与这些标记物的显著关联.
- 在西班牙裔患者中,APOE-ε4和GAUDI PRS显示了与血p-tau181.1.18的适度关联.
- 粉样蛋白-PET PRS与欧洲人的血Aβ42,Aβ42/Aβ40,GFAP,NfL和全球认知有关,GAUDI PRS在西班牙裔人中也有类似的发现.
结论:
- 粉样蛋白多基因风险评分显示出在无症状的欧洲和加勒比海西班牙裔人口中识别早期阿尔茨海默病病理学的预测工具的潜力.
- 这些遗传风险得分可能有助于早期发现和干预阿尔茨海默病的策略.
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