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The ?-Cell Genomic Landscape in T1D: Implications for Disease Pathogenesis.


ABSTRACT:

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 ? 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 ? cells in T1D pathogenesis. Based on such observation several studies aimed in mapping T1D risk variants acting at the ? cell level. Such studies unravel T1D risk loci shared with type 2 diabetes (T2D) and T1D risk variants potentially interfering with ?-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 ? cells in the pathogenesis of T1D.

SUBMITTER: Ramos-Rodriguez M 

PROVIDER: S-EPMC7778620 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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The β-Cell Genomic Landscape in T1D: Implications for Disease Pathogenesis.

Ramos-Rodríguez Mireia M   Pérez-González Beatriz B   Pasquali Lorenzo L  

Current diabetes reports 20210102 1


<h4>Purpose of review</h4>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.<h4>Recent  ...[more]

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