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Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

Sarcoidosis is a complex disease that belongs to the vast group of autoinflammatory disorders, but the etiological mechanisms of which are not known. At the crosstalk of environmental, infectious, and genetic factors, sarcoidosis is a multifactorial disease that requires a multidisciplinary approach...

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Autores principales: Calender, Alain, Weichhart, Thomas, Valeyre, Dominique, Pacheco, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465171/
https://www.ncbi.nlm.nih.gov/pubmed/32823753
http://dx.doi.org/10.3390/jcm9082633
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author Calender, Alain
Weichhart, Thomas
Valeyre, Dominique
Pacheco, Yves
author_facet Calender, Alain
Weichhart, Thomas
Valeyre, Dominique
Pacheco, Yves
author_sort Calender, Alain
collection PubMed
description Sarcoidosis is a complex disease that belongs to the vast group of autoinflammatory disorders, but the etiological mechanisms of which are not known. At the crosstalk of environmental, infectious, and genetic factors, sarcoidosis is a multifactorial disease that requires a multidisciplinary approach for which genetic research, in particular, next generation sequencing (NGS) tools, has made it possible to identify new pathways and propose mechanistic hypotheses. Codified treatments for the disease cannot always respond to the most progressive forms and the identification of new genetic and metabolic tracks is a challenge for the future management of the most severe patients. Here, we review the current knowledge regarding the genes identified by both genome wide association studies (GWAS) and whole exome sequencing (WES), as well the connection of these pathways with the current research on sarcoidosis immune-related disorders.
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spelling pubmed-74651712020-09-04 Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts Calender, Alain Weichhart, Thomas Valeyre, Dominique Pacheco, Yves J Clin Med Review Sarcoidosis is a complex disease that belongs to the vast group of autoinflammatory disorders, but the etiological mechanisms of which are not known. At the crosstalk of environmental, infectious, and genetic factors, sarcoidosis is a multifactorial disease that requires a multidisciplinary approach for which genetic research, in particular, next generation sequencing (NGS) tools, has made it possible to identify new pathways and propose mechanistic hypotheses. Codified treatments for the disease cannot always respond to the most progressive forms and the identification of new genetic and metabolic tracks is a challenge for the future management of the most severe patients. Here, we review the current knowledge regarding the genes identified by both genome wide association studies (GWAS) and whole exome sequencing (WES), as well the connection of these pathways with the current research on sarcoidosis immune-related disorders. MDPI 2020-08-13 /pmc/articles/PMC7465171/ /pubmed/32823753 http://dx.doi.org/10.3390/jcm9082633 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Calender, Alain
Weichhart, Thomas
Valeyre, Dominique
Pacheco, Yves
Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title_full Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title_fullStr Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title_full_unstemmed Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title_short Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
title_sort current insights in genetics of sarcoidosis: functional and clinical impacts
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465171/
https://www.ncbi.nlm.nih.gov/pubmed/32823753
http://dx.doi.org/10.3390/jcm9082633
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