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Next steps in the identification of gene targets for type 1 diabetes – published online 14/08/2020

Struan F. A. Grant, Andrew D. Wells, Stephen S. Rich

Type 1 diabetes is characterised by young age at onset, requirement for exogenous insulin for survival and a strong genetic predisposition in the absence of family history. Genetics account for approximately half of total risk, yet, unlike other diseases, a single genomic region (HLA) constitutes ~50% of that genetic component. Much of the remaining genetic risk has been identified, with the vast majority of variants residing in DNA regulatory regions. In this issue, Grant et al (https://doi.org/10.1007/s00125-020-05248-8) provide a perspective on the transition from an allelic association to the effect of genetic variation on tissue-specific expression, identification of target genes of the associated variants and use of genetic data to identify those individuals at risk of type 1 diabetes prior to clinical presence of symptoms. The authors suggest that functional genomic studies, increased ethnic diversity of individuals included in such studies, and improved characterisation of chromosomal landscapes will be necessary to reveal novel prevention and treatment strategies. The figure in this review is available as a downloadable slide.

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