Phenotypic and genetic classification of diabetes

Aaron J. Deutsch, Emma Ahlqvist, Miriam S. Udler

Research output: Contribution to journalReview articlepeer-review


The historical subclassification of diabetes into predominantly types 1 and 2 is well appreciated to inadequately capture the heterogeneity seen in patient presentations, disease course, response to therapy and disease complications. This review summarises proposed data-driven approaches to further refine diabetes subtypes using clinical phenotypes and/or genetic information. We highlight the benefits as well as the limitations of these subclassification schemas, including practical barriers to their implementation that would need to be overcome before incorporation into clinical practice. Graphical abstract: [Figure not available: see fulltext.].

Original languageEnglish
Pages (from-to)1758-1769
Issue number11
Early online date2022
Publication statusPublished - 2022

Subject classification (UKÄ)

  • Endocrinology and Diabetes

Free keywords

  • Cluster analysis
  • Disease subtypes
  • Genetics
  • MODY
  • Personalised medicine
  • Polygenic score
  • Precision medicine
  • Review
  • Type 1 diabetes
  • Type 2 diabetes


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