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[遗传风险评分:原理、方法与应用]

[Genetic risk score: principle, methods and application].

作者信息

Wang Cheng, Dai Juncheng, Sun Yimin, Xie Lan, Pan Liangbin, Hu Zhibin, Shen Hongbing

机构信息

Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.

Capital Bio Corporation.

出版信息

Zhonghua Liu Xing Bing Xue Za Zhi. 2015 Oct;36(10):1062-4.

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.

摘要

遗传风险评分(GRS)用于评估遗传易感因素在风险预测模型中的作用。GRS常用的方法有五种:即简单计数遗传风险评分(SC-GRS)、比值比加权遗传风险评分(OR-GRS)、直接逻辑回归遗传风险评分(DL-GRS)、多基因遗传风险评分(PG-GRS)和解释方差加权遗传风险评分(EV-GRS)。本文总结了这五种方法的模型、应用条件、优点和局限性。随着纳入更多易感单核苷酸多态性(SNP),预测模型的复杂性增加,已经开发了一些方法来解决这些问题,但新方法的效果需要进一步评估。

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