2型糖尿病是遗传和环境因素共同作用的复杂疾病，尽管已发现90余个2型糖尿病易感位点，但多为遗传标记，缺乏功能解析，且仅能解释~15%的遗传易感性，故遗传机制研究亟需从发现2型糖尿病的易感位点向定位功能性致病位点发展。课题组前期通过全基因组关联研究定位了9个东亚人群2型糖尿病新易感位点，其中rs10229583和rs6467136两个独立位点均位于7q32区域，提示该区域可能存在多个疾病的致病位点。本课题在此基础上，通过对7q32区域的目标区域捕获测序，并结合大样本病例-对照人群验证、生物信息学分析和分子细胞生物学实验，明确该区域疾病的致病位点，阐明致病位点参与2型糖尿病发生的分子机制，并通过前瞻及药物基因组学研究队列，明确这些致病位点在2型糖尿病预警和个体化干预中的作用。本研究对认识中国人2型糖尿病遗传特点及病理生理机制有重要意义，并将推动遗传因素对疾病的早期预测及个体化诊疗进程。

Type 2 diabetes mellitus (T2D) is a complex disease caused by both genetic and environmental factors. Though over 90 T2D susceptible loci have been identified, most of them were genetic markers and could only explain ~15% genetic susceptibility of T2D. Therefore it is imperative to detect potential causal variants for T2D. Previously, we identified 9 novel T2D susceptible loci in East Asians. Among them, 2 (rs10229583 and rs6467136) located in 7q32 region, indicating some casual variants might be existed in this region. Based on this, we plan to perform fine mapping in 7q32 region to detect potential casual variants through deep sequencing, large-size sample validation and bioinformatics analysis. Moreover, we will elucidate the mechanism and investigate the predicting effects of the casual variants. Our research is of importance to know the genetic mechanism, and will promote the prediction and personalized therapy of type 2 diabetes as well.