生物标志物 生物标志物
Vanessa M Colón Badillo1, Joseph S Reddy1, Jiangli Jin1
1Mayo Clinic, Jacksonville, FL, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
非洲裔美国人患痴呆症的风险更高. 遗传变异和血转录显示为可访问的阿尔茨海默病 (AD) 生物标志物具有前途,提高了这一群体的诊断准确性.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 生物标志物发现发现
背景情况:
- 与非西班牙裔白人相比,非洲裔美国人 (AA) 患痴呆症的风险增加了一倍,在阿尔茨海默氏症 (AD) 研究中代表性不足.
- 已经确定了AD的AA特异性风险因素,这表明需要针对性的生物标志物和疗法.
- 这项研究调查了基因变异和血水平作为AA的潜在AD生物标志物.
研究的目的:
- 确定与AD风险和血水平相关的遗传变异是否可以作为非洲裔美国人的准确和可访问的AD生物标志物.
- 为了探索遗传变异,血转录和AA个体和没有AD的AA个体的总tau蛋白水平之间的关联.
主要方法:
- 在189个AAAD病例和183个AA认知不受损 (CU) 对照中针对10个AD相关位点的向DNA测序.
- 基因变异与血转录和陶蛋白水平的关联测试,包括当地祖先推断.
- 接收器操作特征 (ROC) 分析,以评估已识别的e/pQTL和血生物标志物的诊断准确性.
主要成果:
- 在5,112个测试的变体中,有70个与AD风险和血水平相关;7个变体也与当地祖先相关.
- 一个包括年龄,性别,33e/pQTL和血水平的模型实现了AD与CU分类的曲线下面积 (AUC) 88.2%.
- 这种模型在诊断准确度上表现出了30.4%的改进,与只有年龄和性别的基准模型相比.
结论:
- 血转录水平和表达/蛋白质定量特征位点 (e/pQTLs) 是阿尔茨海默病的有希望的诊断生物标志物.
- 这些生物标志物可能会提高诊断的可访问性,并降低在非裔美国人中更准确地诊断AD的成本.
- 对这些生物标志物的进一步研究可能会导致对代表性不足的人群改善AD管理.
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