基于农村社区队列人群的中国成人2型糖尿病风险预测与评估

我国糖尿病患病水平不断上升，同时，随着GWAS研究的不断深入，2型糖尿病的个体化预防成为可能，但是目前尚缺乏基于队列及GWAS研究结果的适合中国人群的风险预测模型及系统评估。本研究在已经建立的3万余人农村社区队列数据库和生物标本库的基础上，随访获取社区人群2型糖尿病发病率等指标，构建亚队列，运用高通量基因分型技术手段，结合2型糖尿病GWAS研究结果，描述已知易感基因的人群分布，评估群体遗传风险，结合环境、生活方式等非遗传危险因素调查，前瞻性研究这些危险因素及遗传变异与我国2型糖尿病的因果关系，识别并评价基因-基因和环境-基因交互作用，进而筛选重要危险因素及易感基因，构建中国2型糖尿病风险预测模型并验证其预测10年风险的效果，初步评价该模型在社区人群中的可行性及对生活方式干预效果的影响，开展已知易感基因的转化评价，为实现社区人群个体化预防提供科学依据，对2型糖尿病防治具有重要理论和现实意义。

The prevalence of diabetes is increasing in mainland China. A personalized prevention of type 2 diabetes (T2D) becomes possible due to recent development of genome-wide association studies(GWASs) of the disease worldwide. In China, however, there is still lack of sufficient evidence from cohort studies of Chinese population and results from GWASs for risk assessment and prediction of T2D. We propose to conduct a cohort study of approximately 30,000 rural adults, and to collect questionnaire data and blood samples. The proposed follow-up study allows us to estimate the incidence of T2D and to determine environmental and lifestyle risk factors for T2D in rural Chinese adults. We will randomly sample a sub-cohort form this large cohort, and estimate the genetic risk of T2D among Chinese rural community population and prospectively search causal genes through GWAS using Sequenom MassARRAY. We will explore possible gene-gene and environment-gene interactions in the development of T2D. Based on environmental and genetic risk profile, we will develop a risk prediction model of T2D for Chinese rural community population and evaluate the accuracy of 10-year T2D risk prediction. This study will also assess the feasibility for such a model to be used to assess lifestyle intervention programs for Chinese rural community population and to target the risk population of T2D. All the study results will be used to develop measures of diabetes prevention and control in rural China, particularly for the personalized interventions.