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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7465171 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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