Article ; Online: Recent advances in sarcoidosis genomics: epigenetics, gene expression, and gene by environment (G × E) interaction studies.
Current opinion in pulmonary medicine
2020 Volume 26, Issue 5, Page(s) 544–553
Abstract: Purpose of review: We aim to review the most recent findings in genomics of sarcoidosis and highlight the gaps in the field.: Recent findings: Original explorations of sarcoidosis subphenotypes, including cases associated with the World Trade Center ... ...
| Abstract | Purpose of review: We aim to review the most recent findings in genomics of sarcoidosis and highlight the gaps in the field. Recent findings: Original explorations of sarcoidosis subphenotypes, including cases associated with the World Trade Center and ocular sarcoidosis, have identified novel risk loci. Innovative gene--environment interaction studies utilizing modern analytical techniques have discovered risk loci associated with smoking and insecticide exposure. The application of whole-exome sequencing has identified genetic variants associated with persistent sarcoidosis and rare functional variations. A single epigenomics study has provided background knowledge of DNA methylation mechanisms in comparison with gene expression data. The application of machine-learning techniques has suggested new drug repositioning for the treatment of sarcoidosis. Several gene expression studies have identified prominent inflammatory pathways enriched in the affected tissue. Summary: Certainly, sarcoidosis research has recently advanced in the exploration of disease subphenotypes, utilizing novel analytical techniques, and including measures of clinical variation. Nevertheless, large-scale and diverse cohorts investigated with advanced sequencing methods, such as whole-genome and single-cell RNA sequencing, epigenomics, and meta-analysis coupled with cutting-edge analytic approaches, when employed, will broaden and translate genomics findings into clinical applications, and ultimately open venues for personalized medicine. |
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| MeSH term(s) | Epigenesis, Genetic ; Epigenomics ; Gene Expression ; Gene-Environment Interaction ; Genome-Wide Association Study ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Precision Medicine ; Sarcoidosis/epidemiology ; Sarcoidosis/genetics ; Sequence Analysis, RNA ; Single-Cell Analysis ; Exome Sequencing |
| Language | English |
| Publishing date | 2020-07-23 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review |
| ZDB-ID | 1285505-4 |
| ISSN | 1531-6971 ; 1070-5287 ; 1078-1641 |
| ISSN (online) | 1531-6971 |
| ISSN | 1070-5287 ; 1078-1641 |
| DOI | 10.1097/MCP.0000000000000719 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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