The pancreatic β cell: recent insights from human genetics

Trends Endocrinol Metab. 2014 Aug;25(8):425-34. doi: 10.1016/j.tem.2014.05.001. Epub 2014 Jun 28.


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

Keywords: GWAS; diabetes; human genetics; pancreatic β cell.

MeSH terms

  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / metabolism
  • Genetic Variation*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Insulin-Secreting Cells / metabolism*