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人类胰腺胰岛的三维染色质结构为 2 型糖尿病的遗传学研究提供了新视角。

Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes.

机构信息

Section of Epigenomics and Disease, Department of Medicine, and National Institute for Health Research Imperial Biomedical Research Centre, Imperial College London, London, UK.

Regulatory Genomics and Diabetes, Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.

出版信息

Nat Genet. 2019 Jul;51(7):1137-1148. doi: 10.1038/s41588-019-0457-0. Epub 2019 Jun 28.

Abstract

Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, such domains have been defined through clustering of enhancers in linear genome maps rather than in three-dimensional (3D) space. Furthermore, their target genes are often unknown. We have created promoter capture Hi-C maps in human pancreatic islets. This linked diabetes-associated enhancers to their target genes, often located hundreds of kilobases away. It also revealed >1,300 groups of islet enhancers, super-enhancers and active promoters that form 3D hubs, some of which show coordinated glucose-dependent activity. We demonstrate that genetic variation in hubs impacts insulin secretion heritability, and show that hub annotations can be used for polygenic scores that predict T2D risk driven by islet regulatory variants. Human islet 3D chromatin architecture, therefore, provides a framework for interpretation of T2D genome-wide association study (GWAS) signals.

摘要

遗传研究有望深入了解 2 型糖尿病(T2D)的分子机制。与 T2D 相关的变异通常位于组织特异性增强子簇或超级增强子中。到目前为止,这些区域是通过线性基因组图谱中增强子的聚类来定义的,而不是在三维(3D)空间中。此外,它们的靶基因通常是未知的。我们在人类胰岛中创建了启动子捕获 Hi-C 图谱。这将与糖尿病相关的增强子与其靶基因联系起来,这些靶基因通常位于数百千碱基之外。它还揭示了>1300 组胰岛增强子、超级增强子和活跃的启动子,它们形成了 3D 枢纽,其中一些显示出协调的葡萄糖依赖性活性。我们证明了枢纽中的遗传变异会影响胰岛素分泌的遗传力,并表明枢纽注释可用于多基因评分,该评分可预测由胰岛调节变异驱动的 T2D 风险。因此,人类胰岛 3D 染色质结构为解释 T2D 全基因组关联研究(GWAS)信号提供了框架。

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