多基因风险评分在全球人群中的转移原理和方法。
Principles and methods for transferring polygenic risk scores across global populations.
机构信息
Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
出版信息
Nat Rev Genet. 2024 Jan;25(1):8-25. doi: 10.1038/s41576-023-00637-2. Epub 2023 Aug 24.
Abstract
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.
摘要
多基因风险评分（PRSs）总结了复杂人类特征或疾病的遗传易感性，可能成为推进精准医学的有价值的工具。然而，在主要具有欧洲遗传血统的人群中开发的 PRS 可能会由于在遗传血统多样且复杂的个体中的预测性能不佳而导致健康差距加大。我们描述了限制 PRS 在人群间转移的遗传和可修改的风险因素，并回顾了现有的用于不同遗传血统的 PRS 构建方法的优缺点。在研究和临床环境中开发有利于全球人群的 PRS 为创新提供了机会，也是实现健康公平的必要条件。
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2
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