Synthesizing genome, epigenome, and transcriptome datasets in type 2 diabetes.

该研究项目的目标是识别非编码功能元件 影响2型糖尿病(T2D)相关基因，并精确定位扰乱 它们的调节功能和增加T2D易感性。与T2D相关的位置 基因组位置提示疾病易感性受非编码变异的影响 监管区域。脂肪和肌肉等外围组织中的胰岛素抵抗，以及 胰岛β细胞功能障碍，是T2D的特征。因此，在中国的研究 这项提案将涉及这三种人体组织类型。尽管T2D已经被 高通量基因组学在基础和临床层面的广泛研究 这里提出的实验只是最近才有可能。该项目使用全基因组 分析技术：了解基因类型、表观基因组学和转录组学 调控变异控制着T2D中的基因。这项研究的完成将提供 T2D相关调控区域的高分辨率全基因组图谱，其功能 对基因调控的影响，以及与临床表型的相关性。

The goal of this research project is to identify non-coding functional elements that may influence type 2 diabetes (T2D)-related genes, and pinpoint DNA variants that perturb their regulatory function and increase T2D susceptibility. The location of T2D-associated genomic loci suggests that disease susceptibility is influenced by variants in non-coding regulatory regions. Insulin resistance in peripheral tissues like adipose and muscle, and pancreatic islet beta-cell dysfunction, are hallmarks of T2D. Accordingly, the research in this proposal will involve all three of these human tissue types. Although T2D has been researched extensively at the basic and clinical level, the high-throughput genomics experiments proposed here are only recently possible. This project uses genome-wide profiling technologies: genotypes, epigenomics, and transcriptomics to understand how regulatory variations control genes in T2D. Completion of this research will provide a high-resolution genome-wide map of T2D relevant regulatory regions, their functional impact on gene regulation, and correlations with clinical phenotypes.