100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.
100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.
复制标题
DOI：
10.1530/joe-21-0067
复制
发表时间：
2021-07-22
影响因子：
4
通讯作者：
Gloyn, Anna L.
中科院分区：
文献类型：
--
作者：
Ikle, Jennifer M.;Gloyn, Anna L.
自从100年前发现胰岛素以来，我们对糖尿病的认识和理解呈指数级增长。具体而言，关于糖尿病风险的遗传学基础，我们的发现在我们对人类基因组的理解和我们大规模研究基因组学的能力方面取得了长足的发展;遗传学的这些进步伴随并导致了糖尿病治疗的进步。这篇综述将探讨基因发现的时间轴和历史，以及这是如何与基因组学领域的进展相吻合的。单基因糖尿病的遗传原因的例子和等位基因系列在这些基因的持续扩张和挑战，这些现在导致诊断解释沿着与患者分层的机会进行了讨论。
Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.