多基因遗传风险评分用于精准预防的研究进展

汪天培; 靳光付; 胡志斌; 沈洪兵

doi:10.16462/j.cnki.zhjbkz.2021.09.001

多基因遗传风险评分用于精准预防的研究进展

doi: 10.16462/j.cnki.zhjbkz.2021.09.001

汪天培^{1, 2},
靳光付^{1, 2, ,},
胡志斌^{1, 2},
沈洪兵¹

1.
211166 南京，南京医科大学公共卫生学院流行病学系
2.
215008 苏州，南京医科大学姑苏学院

基金项目:

国家自然科学基金 81872702

详细信息

通讯作者:
靳光付, E-mail: guangfujin@njmu.edu.cn

中图分类号: R181
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- 文章访问数: 714
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- PDF下载量: 269
- 被引次数: 0
出版历程
- 收稿日期: 2021-08-10
- 修回日期: 2021-08-23
- 网络出版日期: 2021-10-23
- 刊出日期: 2021-09-10

Advances in applications of polygenic risk score in precision prevention

WANG Tian-pei^{1, 2},
JIN Guang-fu^{1, 2
, ,},
HU Zhi-bin^{1, 2},
SHEN Hong-bing¹

1.
Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China
2.
School of Gusu, Nanjing Medical University, Suzhou 215008, China

Funds:

National Natural Science Foundation of China 81872702

More Information

Corresponding author: JIN Guang-fu, E-mail: guangfujin@njmu.edu.cn

摘要

摘要: 近年来，全基因组关联研究鉴定了大量复杂性疾病的遗传易感位点。多基因遗传风险评分通过整合多个易感位点的效应，已被证明可用于量化多种复杂性疾病的遗传风险，对于人群风险分层以及进一步实现精准医学目标存在潜在应用价值。本文介绍了多基因遗传风险评分构建及其评价方法，并就其在精准预防应用中的最新研究进展做概述。
- 多基因遗传风险评分 /
- 全基因组关联研究 /
- 精准预防
Abstract: Genome-wide association studies have successfully identified numerous genetic loci for complex diseases. Polygenic risk score combining multiple loci together has been proved to effectively measure genetic risk of complex diseases, which poses opportunities for risk stratification and potential precision medicine application. This paper briefly reviews the recent progress in the development and evaluation of polygenic risk score, and summarizes its application in precision prevention.
- Polygenic risk score /
- Genome-wide association study /
- Precision prevention

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