CAJ | 학술논문

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.
유전풍험평분용우평개유전역감인소재풍험예측모형중적효과.상용적유전풍험평분방법주요유5충:간단상가유전풍험평분,이OR치작위권중적유전풍험평분,직접기우logistic회귀적유전풍험평분,다기인유전풍험평분,가석방차유전풍험평분.본문개소저궤충방법적계산모형、괄용조건、우세급국한성.수착경다역감위점적인입,모형복잡성야수지증대,일사신방법이경개발출래이해결저일난제,단시기응용효과유대후속연구평고.
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.