학술논문

Principles and methods for transferring polygenic risk scores across global populations.
Document Type
article
Source
Nature Reviews Genetics. 25(1)
Subject
Humans
Genetic Predisposition to Disease
Risk Factors
Multifactorial Inheritance
Precision Medicine
Genome-Wide Association Study
Language
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.