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多基因风险评分在精神疾病遗传学中的应用。

Applications of Polygenic Risk Scores in Psychiatric Genetics.

作者信息

Mao Qiao, Lan Zhimin, Liu Ping, Guo Dengjun, Wang Xiaoping, Lin Jie, Luo Xingguang

机构信息

Department of Psychosomatic Medicine, People's Hospital of Deyang City, Deyang, Sichuan 618000, China.

Beijing Huilongguan Hospital, Peking University Huilongguan Clinical School of Medicine, Beijing 100096, China.

出版信息

EC Psychol Psychiatr. 2023;12(4):19-21. Epub 2023 Mar 13.

Abstract

Polygenic risk score (PRS) is a powerful tool for studying the genetic architecture of complex diseases, including psychiatric disorders. This review highlights the use of PRS in psychiatric genetics, including its application in identifying high-risk individuals, estimating heritability, assessing shared etiology between phenotypes, and personalizing treatment plans. It also explains the methodology for calculating PRS, the challenges associated with their use in clinical settings, and future research directions. The main limitation of PRS is that the current models only account for a small fraction of the heritability of psychiatric disorders. Despite this limitation, PRS represents a valuable tool that has already yielded important insights into the genetic architecture of psychiatric disorders.

摘要

多基因风险评分(PRS)是研究包括精神疾病在内的复杂疾病遗传结构的有力工具。本综述重点介绍了PRS在精神遗传学中的应用,包括其在识别高危个体、估计遗传力、评估表型之间的共同病因以及个性化治疗方案方面的应用。它还解释了计算PRS的方法、在临床环境中使用PRS所面临的挑战以及未来的研究方向。PRS的主要局限性在于,目前的模型仅解释了精神疾病遗传力的一小部分。尽管存在这一局限性,但PRS仍是一种有价值的工具,已经为精神疾病的遗传结构提供了重要见解。

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本文引用的文献

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Tutorial: a guide to performing polygenic risk score analyses.教程:多基因风险评分分析操作指南。
Nat Protoc. 2020 Sep;15(9):2759-2772. doi: 10.1038/s41596-020-0353-1. Epub 2020 Jul 24.
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Predicting Polygenic Risk of Psychiatric Disorders.预测精神障碍的多基因风险。
Biol Psychiatry. 2019 Jul 15;86(2):97-109. doi: 10.1016/j.biopsych.2018.12.015. Epub 2018 Dec 28.

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