| 王铖,戴俊程,孙义民,谢兰,潘良斌,胡志斌,沈洪兵.遗传风险评分的原理与方法[J].Chinese journal of Epidemiology,2015,36(10):1062-1064 |
| 遗传风险评分的原理与方法 |
| Genetic risk score:principle,methods and application |
| Received:June 15, 2015 |
| DOI：10.3760/cma.j.issn.0254-6450.2015.10.005 |
| KeyWord: 遗传易感因素 风险评分 疾病预测模型 |
| English Key Word: Genetic susceptibility factor Risk score Disease prediction model |
| FundProject:国家自然科学基金重点项目(81230067);江苏高校优势学科建设工程专项资金(公共卫生与预防医学) |
| Author Name | Affiliation | E-mail | | Wang Cheng | Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China | | | Dai Juncheng | Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China | | | Sun Yimin | Capital Bio Corporation | | | Xie Lan | Medical Systems Biology Research Center, Tsinghua University School of Medicine | | | Pan Liangbin | Capital Bio eHealth Corporation | | | Hu Zhibin | Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China | | | Shen Hongbing | Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China | hbshen@njmu.edu.cn |
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| Abstract: |
| 遗传风险评分用于评价遗传易感因素在风险预测模型中的效果。常用的遗传风险评分方法主要有5种:简单相加遗传风险评分,以OR值作为权重的遗传风险评分,直接基于logistic回归的遗传风险评分,多基因遗传风险评分,可释方差遗传风险评分。本文介绍这几种方法的计算模型、适用条件、优势及局限性。随着更多易感位点的引入,模型复杂性也随之增大,一些新方法已经开发出来以解决这一难题,但是其应用效果有待后续研究评估。 |
| English Abstract: |
| Genetic risk score(GRS) is used for evaluating the effects of genetic susceptible factors in risk prediction models. Five methods are commonly used for GRS:i.e. simple count genetic risk score (SC-GRS),odds ratio weighted genetic risk score (OR-GRS),direct logistic regression genetic risk score(DL-GRS),polygenic genetic risk score(PG-GRS) and explained variance weighted genetic risk score(EV-GRS). This paper summarizes the models,application conditions,advantages and limitations of the five methods. The complexity of prediction models increased along with the inclusion of more susceptible SNPs,some method have been developed to solve the problems,but the effects of new methods needs further evaluation. |
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