The β-cell genomic landscape in T1D: implications for disease pathogenesis

Citació

  • Ramos-Rodríguez M, Pérez-González B, Pasquali L. The β-cell genomic landscape in T1D: implications for disease pathogenesis. Curr Diab Rep. 2021;21(1):1. DOI: 10.1007/s11892-020-01370-4

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Descripció

  • Resum

    Purpose of review: Type 1 diabetes (T1D) develops as a consequence of a combination of genetic predisposition and environmental factors. Combined, these events trigger an autoimmune disease that results in progressive loss of pancreatic β cells, leading to insulin deficiency. This article reviews the current knowledge on the genetics of T1D with a specific focus on genetic variation in pancreatic islet regulatory networks and its implication to T1D risk and disease development. Recent findings: Accumulating evidence suggest an active role of β cells in T1D pathogenesis. Based on such observation several studies aimed in mapping T1D risk variants acting at the β cell level. Such studies unravel T1D risk loci shared with type 2 diabetes (T2D) and T1D risk variants potentially interfering with β-cell responses to external stimuli. The characterization of regulatory genomics maps of disease-relevant states and cell types can be used to elucidate the mechanistic role of β cells in the pathogenesis of T1D.
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