The pancreatic β cell: recent insights from human genetics
作者： Soren K. Thomsen , Anna L. Gloyn
DOI: 10.1016/J.TEM.2014.05.001
关键词:
摘要: Diabetes mellitus is a metabolic disease characterised by relative or absolute pancreatic β cell dysfunction. Genetic variants implicated in risk can be identified studying affected individuals. To understand the mechanisms driving genetic associations, must translated through causative transcripts to biological insights. Studies into basis of Mendelian forms diabetes have successfully genes involved both function and development. For type 2 (T2D), genome-wide association studies (GWASs) are uncovering an ever-increasing number susceptibility that exert their effect dysfunction, but translation mechanistic understanding has most cases been slow. Improved annotations islet genome advances whole-genome -exome sequencing (WHS WES) facilitated recent progress.
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