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

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• dc.contributor.author Ramos-Rodríguez, Mireia
• dc.contributor.author Pérez-González, Beatriz
• dc.contributor.author Pasquali, Lorenzo
• dc.date.accessioned 2022-02-03T07:37:15Z
• dc.date.available 2022-02-03T07:37:15Z
• dc.date.issued 2021
• dc.description.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 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.
• dc.description.sponsorship This review was supported by the Spanish Ministry of Economy and Competiveness (SAF2017–86242-R), EFSD/JDRF/Lilly Programme on Type 1 Diabetes Research, Premi Gonçal Lloveras i Vallès a l’Excelència en Investigació junior 2020 and Unidad María de Maeztu (MDM-2014-0370).
• dc.format.mimetype application/pdf
• dc.identifier.citation 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
• dc.identifier.doi http://dx.doi.org/10.1007/s11892-020-01370-4
• dc.identifier.issn 1534-4827
• dc.identifier.uri http://hdl.handle.net/10230/52413
• dc.language.iso eng
• dc.publisher Springer
• dc.relation.ispartof Curr Diab Rep. 2021;21(1):1
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/SAF2017–86242-R
• dc.rights © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Beta cells
• dc.subject.keyword Epigenomics
• dc.subject.keyword Human genetics
• dc.subject.keyword Pancreatic islets
• dc.subject.keyword Regulatory genomics
• dc.subject.keyword Type 1 diabetes
• dc.title The β-cell genomic landscape in T1D: implications for disease pathogenesis
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion