玻璃眼多原风险评分表明,在两个大型多民族队伍中,异质性表现
Niloufar Bineshfar1, Liyin Chen1, Yan Zhao1
1Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Ophthalmology. Glaucoma
|November 26, 2025
概括
多基因风险评分 (PRS) 对玻璃眼风险分层有希望,但它们的可靠性在不同人群中各不相同. 虽然PRS在人口层面上预测青光眼,但个体风险预测是不稳定的,限制了独立的临床使用.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 生物统计学 生物统计学
背景情况:
- 玻璃眼是全球不可逆转失明的主要原因.
- 多基因风险评分 (PRS) 是用于分层患者风险的新兴工具.
- 多种不同人群中DrDeramus PRS的一致性和可靠性需要进行彻底的调查.
研究的目的:
- 评估已公布的多基因眼风险评分 (PRS) 的人口水平表现和个人水平风险分配.
- 为了评估青光眼PRS在两个大型的多民族队伍中的一致性:我们所有人 (AoU) 研究计划和大众大将布里格姆 (MGB) 生物银行.
主要方法:
- 采用了横截面研究设计.
- 使用逻辑回归模型评估了11个已发表的青光眼PRS.
- 通过检查与开角青光眼 (OAG) 的关联以及使用皮尔森相关性和贾卡德指数的风险分类协议来评估性能.
主要成果:
- 所有评估的PRS都与增加OAG在人口层面的几率显著相关.
- 性能因祖先而异,在欧洲祖先中最强的关联,在非洲和混合美国祖先中减弱的影响.
- 个人风险分类在PRS中显示出较低的一致性,Pearson中位数r=0.42和Jaccard指数=0.16,表明不稳定.
结论:
- 已发表的青光眼PRS显示出一致的人口级预测,但缺乏独立临床应用的个人级可靠性.
- 眼PRS应该作为已确定的风险因素的附加剂,而不是作为主要诊断工具.
- 未来的研究应该集中在开发方法来评估PRS可靠性和标准化分析方法以提高临床效用.
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