遗传风险评分在预测2型糖尿病中的进展

Progress of genetic risk scores in predicting type 2 diabetes

据报道,全球20~79岁的糖尿病患者约5.37亿,约有670万成年人死于糖尿病或糖尿病并发症。而我国已成为世界上糖尿病患者人数最多的国家。2型糖尿病(type 2 diabetes mellitus,T2DM)是环境和遗传因素共同作用的结果,近年来T2DM发病率持续上升,预防和控制T2DM的发生发展变得十分重要。为解决这一现状,T2DM研究团队进行了T2DM风险预测模型的建立,目前纳入T2DM预测模型中的机制大多是脂代谢、胰岛功能、糖代谢、饮食习惯等,基本为传统危险因素,导致国内外T2DM预测模型存在“同质化现象”,现存的模型在不同人群中的预测效果不理想,迫切需要新思路新方法加入。随着人类基因组计划的完成,易感基因与传统危险因子联合应用建立T2DM预测模型的研究越来越多,因此本文拟将易感基因与传统危险因子联合应用,建立纳入新机制的T2DM预测模型,将“先天性”遗传因素和“后天性”生理生化指标整合起来,旨在精准预测T2DM,同时遗传因素采用遗传风险评分(gene risk score,GRS)表示,探索GRS如何应用到预测模型中也是本文的目的之一。本文通过检索国内外文献进行了2型糖尿病遗传风险评分计算、遗传风险评分与传统临床危险因素联合应用预测2型糖尿病以及遗传风险评分如何应用这几个方面的综述,为今后2型糖尿病预测模型的完善提供思路和依据。

It is reported that there are about 537 million diabetes patients aged 20-79 years around the world,and about 6.7 million adults die of diabetes or diabetes complications.China has become the country with the largest number of diabetes patients in the world.Type 2 diabetes mellitus(T2DM)is the result of environmental and genetic factors.In recent years,the incidence rate of T2DM continues to rise,so it is very important to prevent and control the occurrence and development of T2DM.To address this situation,the T2DM research team has established a T2DM risk prediction model.Currently,the mechanisms included in the T2DM prediction model are mostly lipid metabolism,pancreatic function,glucose metabolism,dietary habits,etc.,which are basically traditional risk factors.This has led to the phenomenon of"homogenization"in domestic and foreign T2DM prediction models.The prediction effect of existing models in different populations is not ideal,and there is an urgent need for new ideas and methods to be added.With the completion of the Human Genome Project,more and more studies have been carried out on the establishment of T2DM prediction models based on the joint application of susceptibility genes and traditional risk factors.Therefore,this paper plans to jointly apply susceptibility genes and traditional risk factors to establish T2DM prediction models incorporating new mechanisms,integrate"congenital"genetic factors and"acquired"physiological and biochemical indicators,and aim to accurately predict T2DM.At the same time,genetic factors are represented by the genetic risk score(GRS),and exploring how GRS can be applied to prediction models is also one of the purposes of this article.This paper reviewed the calculation of genetic risk score for type 2 diabetes mellitus,the combination of genetic risk score and traditional clinical risk factors in predicting type 2 diabetes mellitus,and how to apply genetic risk score through searching domestic and foreign literature,providing ideas and basis for the improvement of prediction model for type 2 diabetes mellitus in the future.