Genomics of Islet (Dys)function and Type 2 Diabetes

Trends Genet. 2017 Apr;33(4):244-255. doi: 10.1016/j.tig.2017.01.010. Epub 2017 Feb 27.


Pancreatic islet dysfunction and beta cell failure are hallmarks of type 2 diabetes mellitus (T2DM) pathogenesis. In this review, we discuss how genome-wide association studies (GWASs) and recent developments in islet (epi)genome and transcriptome profiling (particularly single cell analyses) are providing novel insights into the genetic, environmental, and cellular contributions to islet (dys)function and T2DM pathogenesis. Moving forward, study designs that interrogate and model genetic variation [e.g., allelic profiling and (epi)genome editing] will be critical to dissect the molecular genetics of T2DM pathogenesis, to build next-generation cellular and animal models, and to develop precision medicine approaches to detect, treat, and prevent islet (dys)function and T2DM.

Keywords: Type 2 diabetes (T2D); epigenomics; genomics; pancreatic islets; single cell; transcriptomics.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / metabolism
  • Gene Editing
  • Genome, Human
  • Genomics
  • Humans
  • Insulin-Secreting Cells / metabolism*
  • Insulin-Secreting Cells / pathology
  • Islets of Langerhans / metabolism*
  • Islets of Langerhans / pathology
  • Single-Cell Analysis
  • Transcriptome / genetics*