Purpose of Review

Type 1 diabetes (T1D) develops as a consequence of a combination of genetic predisposition and environmental factors. Combined, these events trigger an autoimmune disease that results in progressive loss of pancreatic β cells, leading to insulin deficiency. This article reviews the current knowledge on the genetics of T1D with a specific focus on genetic variation in pancreatic islet regulatory networks and its implication to T1D risk and disease development.

Recent Findings

Accumulating evidence suggest an active role of β cells in T1D pathogenesis. Based on such observation several studies aimed in mapping T1D risk variants acting at the β cell level. Such studies unravel T1D risk loci shared with type 2 diabetes (T2D) and T1D risk variants potentially interfering with β-cell responses to external stimuli.

Summary

The characterization of regulatory genomics maps of disease-relevant states and cell types can be used to elucidate the mechanistic role of β cells in the pathogenesis of T1D.

中文翻译：

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T1D中的β细胞基因组景观：对疾病发病机制的影响

审查目的

1型糖尿病（T1D）是遗传易感性和环境因素共同作用的结果。这些事件共同引发自身免疫疾病，导致胰腺β细胞进行性丧失，导致胰岛素缺乏。本文回顾了有关T1D遗传学的当前知识，特别关注胰腺胰岛调控网络中的遗传变异及其对T1D风险和疾病发展的影响。

最近的发现

越来越多的证据表明，β细胞在T1D发病机理中起着积极作用。基于这样的观察，一些研究旨在定位作用于β细胞水平的T1D风险变异体。此类研究揭示了与2型糖尿病（T2D）和T1D风险变异体共有的T1D风险基因座，这些变体可能干扰β细胞对外部刺激的反应。

概要

疾病相关状态和细胞类型的调控基因组图谱的表征可用于阐明β细胞在T1D发病机理中的机制作用。