影响胰岛β细胞功能基因的常见变异与中国人2型糖尿病微血管并发症的关联研究

项目名称： 影响胰岛β细胞功能基因的常见变异与中国人2型糖尿病微血管并发症的关联研究

项目编号： No.81200582

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 医学二处

项目作者： 王婕

作者单位： 上海交通大学

项目金额： 23万元

中文摘要： 糖尿病微血管病变是一个受到血糖控制和遗传因素共同影响的复杂疾病。由于其临床性状复杂，样本难以收集，一直是遗传学研究的难点。课题组前期开展了Shanghai Diabetic Complications Study等流行病学研究，已建立了用于中国人2型糖尿病微血管病变的研究样本，本课题拟以此人群为研究对象（筛选后～4000人用于本研究），选取与胰岛功能相关的40余个基因的SNP位点，开展遗传关联研究，寻找与2型糖尿病微血管病变相关的易感位点，并利用香港合作人群进一步验证（～6000例），同时进一步分析各位点对患病程度的影响。经确认的易感位点，将初步开展功能实验，为阐明疾病的分子机制奠定基础。本研究对认识中国人2型糖尿病肾病和眼病并发症的遗传机制具有重要理论意义，将推动2型糖尿病微血管并发症的病因学研究。

中文关键词： 2型糖尿病；微血管并发症；遗传；关联研究；

英文摘要： Diabetic microvascular complication is a complex disease affected by both genetic factors and glucose status. As the phenotypes of complications are complex and difficult to collect, the genetics of diabetic microvascular complication is a scientific question remained to be answered. Previously we performed several epidemic studies including Shanghai Diabetic Complications Study and established the database for diabetic chronic complication studies in Chinese. In this project, we plan to investigate the association between diabetic microvascular complications and ~40 loci linked to beta cell function in ~4000 subjects from these epidemic studies, the loci showed association to disease will be replicated in additional ~6000 subjects recruited from Hong Kong Diabetes Registy. We will also carry out functional studies to elucidate how the variant(s) participate in the disease. This project is important for the understanding of genetic mechanism of type 2 diabetes in the Chinese and will promote the genetic study on diabetic microvascular complications in the Chinese.

英文关键词： type 2 diabets；microvascular complications；genetics；association study；