| 多基因遗传风险评分用于精准预防的研究进展 |
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| 引用本文： | 汪天培, 靳光付, 胡志斌, 沈洪兵. 多基因遗传风险评分用于精准预防的研究进展[J]. 中华疾病控制杂志, 2021, 25(9): 993-997. doi: 10.16462/j.cnki.zhjbkz.2021.09.001 |
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| 作者姓名： | 汪天培 靳光付 胡志斌 沈洪兵 |
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| 作者单位： | 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 |
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| 基金项目： | 国家自然科学基金81872702 |
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| 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。
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| 关 键 词： | 多基因遗传风险评分 全基因组关联研究 精准预防 |
| 收稿时间： | 2021-08-10 |
| 修稿时间： | 2021-08-23 |
Advances in applications of polygenic risk score in precision prevention |
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| WANG Tian-pei, JIN Guang-fu, HU Zhi-bin, SHEN Hong-bing. Advances in applications of polygenic risk score in precision prevention[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2021, 25(9): 993-997. doi: 10.16462/j.cnki.zhjbkz.2021.09.001 |
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| Authors: | WANG Tian-pei JIN Guang-fu HU Zhi-bin SHEN Hong-bing |
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| Affiliation: | 1. Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China;;2. School of Gusu, Nanjing Medical University, Suzhou 215008, China |
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| 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. |
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| Keywords: | Polygenic risk score Genome-wide association study Precision prevention |
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