发生性痴呆症的多基因风险得分在动脉样硬化多民族研究中
medRxiv : the preprint server for health sciences
|March 17, 2025
概括
多基因风险评分 (PRS) 可以预测不同人群的痴呆症. 使用较少遗传变异的简单PRS模型可能会在不同种族群体中更好地预测阿尔茨海默病.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 流行病学 流行病学
背景情况:
- 全基因组关联研究已经确定了超过75种与阿尔茨海默病 (AD) 和痴呆相关的变异.
- 多基因风险评分 (PRS) 在多元化和混合群体中预测AD和痴呆症的有效性尚不清楚.
研究的目的:
- 为了比较不同PRS方法在不同人群中预测痴呆症的性能.
- 为了评估非洲裔美国人,中国人,西班牙裔和白人个体的PRS实用性.
主要方法:
- 与贝叶斯方法 (PRS-CS,PRS-CSx) 相比,用不同的参数进行聚合和值 (C+T) 方法.
- 评估了来自动脉样硬化多民族研究的6338名个体的预测准确性.
- 根据自我报告的种族/种族和估计的非芬兰裔欧洲人 (NFE) 血统进行分层分析.
主要成果:
- 基于C+T方法的PRS仅有15个SNP,与使用80万个SNP (HR=1.13) 的贝叶斯模型相比,与痴呆风险的相关性更强 (HR=1.21) .
- 即使在具有较低NFE类祖先的群体中,表现仍然很强.
- 包括更多的变体并没有改善预测性能.
结论:
- 更有选择性的PRS模型,利用较少的单核酸多态 (SNPs),可以在不同人群中提供优越的阿尔茨海默病预测.
- 在多民族队伍中,PRS方法需要仔细考虑变体选择和源祖先,以获得最佳的表现.
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