维生素D和维生素D受体基因多态性在2型糖尿病发病中的作用研究

项目名称： 维生素D和维生素D受体基因多态性在2型糖尿病发病中的作用研究

项目编号： No.U1204823

项目类型： 联合基金项目

立项/批准年度： 2013

项目学科： 预防医学、地方病学、职业病学、放射医学

项目作者： 王重建

作者单位： 郑州大学

项目金额： 30万元

中文摘要： 2型糖尿病（T2DM）是遗传因素与环境因素共同作用的结果，虽已发现一些易感基因和环境因素与T2DM相关，但其病因和发病机制尚未完全阐明。近年来有研究显示，T2DM的发生可能与血清维生素D（Vit D）缺乏和维生素D受体（VDR）基因变异有关。因此，申请者拟在前期相关研究的基础上开展Vit D流行病学现况调查、病例对照遗传家系、个体干预实验等多阶段研究。采用现况调查阐述Vit D营养水平及相关生化指标与T2DM之间的关系；采用病例对照家系研究探讨VDR基因与T2DM的遗传关联，联合应用MDR和CART模型分析基因-环境的交互作用；通过口服Vit D个体干预试验系统评价Vit D在T2DM病程发展过程中的作用。研究结果不仅有助于全面认识Vit D及VDR基因多态性在T2DM发病中的作用，而且有助于为T2DM高发风险的估计、个体化预防及综合防治措施的制定和实施提供科学依据。

中文关键词： 2型糖尿病；维生素D；维生素D受体；基因多态性；病例对照家系

英文摘要： The type 2 diabetes mellitus (T2DM) is caused by a combination of genetics and environment risk factors. Although some environmental factors and susceptible genes related to T2DM have been identified, the pathogenesis of T2DM remains unclear. Recent studies indicated that vitamin D (Vit D) deficiency and vitamin D receptor (VDR) gene polymorphism have been related with the pathogenesis of T2DM. Based on the previous studies, the epidemiological cross-sectional survery, case-control family and individual intervention experiments on Vit D will be performed in this project. Firstly, the relationship between the Vit D level and the relevant biochemical parameters in particpants with T2DM was researched by cross-sectional survey. Secondly, the relationship between the VDR gene polymorphism and T2DM will be investigated and analyzed by the case-control family design. In addition, the gene-gene interaction and gene-environment interaction will be analyzed by case-control family study, and then the combined effects were evaluated on genetic susceptibility and enrivonment factors in T2DM by multifactor dimensionality reduction (MDR) and classification and regression tree (CART) model. Thirdly, the role of Vit D in T2DM development process was systematically evaluated by individual intervention experiments. The findings o

英文关键词： Type 2 diabetes mellitus；Vitamin D；Vitamin D receptor；Gene polymorphism；Case-control family design