A brief history of diabetes genetics: insights for pancreatic beta-cell development and function

被引：7
作者：
Ikle, Jennifer M. [1 ]
Gloyn, Anna L. [1 ,2 ]
机构：
[1] Stanford Univ, Dept Pediat, Div Endocrinol, Sch Med, Stanford, CA 94305 USA
[2] Stanford Univ, Stanford Diabet Res Ctr, Stanford, CA 94305 USA
来源：
JOURNAL OF ENDOCRINOLOGY | 2021年 / 250卷 / 03期
关键词：
diabetes; pancreas; genomics; b-cell development; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA; HEPATOCYTE NUCLEAR FACTOR-1-ALPHA; INSULIN PROMOTER FACTOR-1; ACTIVATING MUTATIONS; GLUCOKINASE GENE; INS GENE; KIR6.2; KCNJ11; GCK MUTATIONS; COMMON-CAUSE; YOUNG MODY;
D O I：
10.1530/JOE-21-0067
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：R23 / R35
页数：13
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