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Genetics of Type 2 Diabetes

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Metabolic Syndrome

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Abstract

The promise of high-throughput genomics has started to deliver novel insights in the genetic etiology of type 2 diabetes and its related traits. In particular, genome-wide association studies (GWAS) have revealed new biological underpinnings to metabolic traits, with particular focus being on the strongest loci TCF7L2 and FTO. However, many challenges still lie ahead as much of the “missing heritability” of such traits remains to be elucidated, with only a proportion of the genetic component to type 2 diabetes being characterized to date. Undeterred, investigators are aiming to use what has been found to already attempt risk prediction models, while laboratory-based researchers are trying to elucidate functional mechanisms. However, the latter have a number of challenges as these well-established signals still have to fully characterize the causal tissue, the causal variant, and often the actual causal gene. However, once advances are made of these fronts, the future looks bright with respect to the development of novel therapeutics and diagnostics for type 2 diabetes and its related traits.

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  1. Center for Spatial and Functional Genomics, Divisions of Human Genetics and Endocrinology & Diabetes, Children’s Hospital of Philadelphia; Department of Genetics, Department of Pediatrics, Institute of Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Struan F. A. Grant

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  1. Division of Endocrinology, Diabetes and Metabolism Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, USA

    Rexford S. Ahima

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Grant, S.F.A. (2023). Genetics of Type 2 Diabetes. In: Ahima, R.S. (eds) Metabolic Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-031-40116-9_11

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