Construction and Application of Polygenic Risk Score in Stroke

doi:10.3969/j.issn.1673－5765.2023.07.002

Abstract

Abstract: Stroke is a complex disease caused by genetic and environmental factors. The development of human genetics had provided new opportunities for individualized prevention and treatment of stroke. Polygenic risk score (PRS) is an estimate of an individual's genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study (GWAS) data. PRS is a complementary method to GWAS in genetic research. PRS can stratify the risk of patients for personalized management, thus contributing to accurate prediction, prevention, and control of complex diseases such as stroke. Based on this, this review describes the development of PRS and its application in stroke research, aiming to provide insights for relevant domestic studies.

Key words: Polygenic risk score; Stroke; Genome-wide association study

摘要： 卒中是一种由遗传和环境因素共同作用引起的复杂疾病，人类遗传学的发展为卒中的个体化预防和治疗提供了新的机会。多基因风险评分是根据个体的基因型和相关的全基因组关联研究数据，对一种性状或疾病的遗传倾向进行估计，是遗传学研究中全基因组关联研究的补充方法。多基因风险评分可以对患者进行风险分层以进行个性化管理，从而有助于卒中等复杂疾病的精准预测和防控。基于此，本篇综述阐述了多基因风险评分的构建及其在卒中研究中的应用情况，以期为国内相关研究提供思路。

关键词: 多基因风险评分; 卒中; 全基因组关联研究

CHEN Siding, JIANG Yong, XU Zhe, SHI Yanfeng, CHENG Si, GU Hongqiu, WANG Yongjun. Construction and Application of Polygenic Risk Score in Stroke [J]. Chinese Journal of Stroke, 2023, 18(07): 741-750.

陈思玎, 姜勇, 许喆, 石延枫, 程丝, 谷鸿秋, 王拥军. 多基因风险评分的构建及其在卒中领域的应用[J]. 中国卒中杂志, 2023, 18(07): 741-750.

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