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Models Contribution to the Understanding of Sarcoidosis Pathogenesis: “Are There Good Models of Sarcoidosis?”
Review

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

1
Department of Molecular and Medical genetics, Hospices Civils de Lyon, University Hospital, 69500 Bron, France
2
CNRS UMR 5305, Tissue Biology and Therapeutic Engineering Laboratory, University Claude Bernard Lyon 1, 69007 Lyon, France
3
Center for Pathobiochemistry and Genetics, Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria
4
INSERM UMR 1272, Department of Pulmonology, Avicenne Hospital, University Sorbonne Paris Nord, Saint Joseph Hospital, AP-HP, 75014 Paris, France
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(8), 2633; https://doi.org/10.3390/jcm9082633
Received: 10 July 2020 / Revised: 5 August 2020 / Accepted: 11 August 2020 / Published: 13 August 2020
(This article belongs to the Special Issue Management of Sarcoidosis: Challenges and Solutions)
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. View Full-Text
Keywords: sarcoidosis; genetics; T cell activation; mTOR; autophagy; innate immunity sarcoidosis; genetics; T cell activation; mTOR; autophagy; innate immunity
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MDPI and ACS Style

Calender, A.; Weichhart, T.; Valeyre, D.; Pacheco, Y. Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts. J. Clin. Med. 2020, 9, 2633. https://doi.org/10.3390/jcm9082633

AMA Style

Calender A, Weichhart T, Valeyre D, Pacheco Y. Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts. Journal of Clinical Medicine. 2020; 9(8):2633. https://doi.org/10.3390/jcm9082633

Chicago/Turabian Style

Calender, Alain, Thomas Weichhart, Dominique Valeyre, and Yves Pacheco. 2020. "Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts" Journal of Clinical Medicine 9, no. 8: 2633. https://doi.org/10.3390/jcm9082633

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