Back to Search
Start Over
Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts
- Source :
- Journal of Clinical Medicine, Journal of Clinical Medicine, Vol 9, Iss 2633, p 2633 (2020)
- Publication Year :
- 2020
- Publisher :
- MDPI, 2020.
-
Abstract
- 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.
- Subjects :
- autophagy
Complex disease
lcsh:Medicine
Genome-wide association study
Computational biology
Disease
Review
DNA sequencing
03 medical and health sciences
0302 clinical medicine
Medicine
genetics
sarcoidosis
innate immunity
Exome sequencing
030304 developmental biology
0303 health sciences
business.industry
T cell activation
Multifactorial disease
lcsh:R
General Medicine
medicine.disease
030220 oncology & carcinogenesis
mTOR
Sarcoidosis
business
Autoinflammatory Disorders
Subjects
Details
- Language :
- English
- ISSN :
- 20770383
- Volume :
- 9
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Medicine
- Accession number :
- edsair.doi.dedup.....7a7a18085fb1a1090a1c838bd920a2ca