ArticleThe European respiratory journal2021
Transcriptomics of bronchoalveolar lavage cells identifies new molecular endotypes of sarcoidosis.
Article in The European respiratory journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 54 citations in OpenAlex.
- Derivation of a peripheral blood-based transcriptomic risk score for extrapulmonary sarcoidosis.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2026Article
- Mycobacterium tuberculosis-specific blood immune signatures distinguish sarcoidosis from tuberculosis disease.Journal of immunology (Baltimore, Md. : 1950) · 2026Article
- Single cell transcriptome signatures and cell-cell interactions associated with sarcoidosis in lung immune cell populations.Frontiers in immunology · 2026Article
- Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.Current allergy and asthma reports · 2025Review
- Integrative analysis of transcriptome and metabolome profiles reveals immune-metabolic alterations in pulmonary sarcoidosis.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Unravelling the transcriptomic characteristics of bronchoalveolar lavage in post-covid pulmonary fibrosis.BMC medical genomics · 2025Article
- Phenotypes and Endotypes in Sarcoidosis: Unraveling Prognosis and Disease Course.Biomedicines · 2025Review
- The textures of sarcoidosis: quantifying lung disease through variograms.Physics in medicine and biology · 2025Article
- Overview of multi-omics approaches for pulmonary sarcoidosis.EC pulmonology and respiratory medicine · 2025Article
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- The Role of Inflammation and Fibrosis in Interstitial Lung Disease Treatment Decisions.American journal of respiratory and critical care medicine · 2024Article
- Multi-omic signatures of sarcoidosis and progression in bronchoalveolar lavage cells.Respiratory research · 2024Article
- The textures of sarcoidosis: quantifying lung disease through variograms.medRxiv : the preprint server for health sciences · 2024Article
- Aberrant Lipid Metabolism in Macrophages Is Associated with Granuloma Formation in Sarcoidosis.American journal of respiratory and critical care medicine · 2024Article
- Environmental pollutants and phosphoinositide signaling in autoimmunity.Journal of hazardous materials · 2024Review
- Noninfectious Granulomatous Lung Disease: Radiological Findings and Differential Diagnosis.Journal of personalized medicine · 2024Review
- Immune mechanisms of granuloma formation in sarcoidosis and tuberculosis.The Journal of clinical investigation · 2024Review
- Lung fibrosis in sarcoidosis. Is there a place for antifibrotics?Frontiers in pharmacology · 2024Review
- Unveiling the Diagnostic Potential: A Comprehensive Review of Bronchoalveolar Lavage in Interstitial Lung Disease.Cureus · 2024Review
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Authors and funding
30 authors at 9 institutions in 3 countries.
Funding
Abstract
backgroundSarcoidosis is a multisystem granulomatous disease of unknown origin with a variable and often unpredictable course and pattern of organ involvement. In this study we sought to identify specific bronchoalveolar lavage (BAL) cell gene expression patterns indicative of distinct disease phenotypic traits.
methodsRNA sequencing by Ion Torrent Proton was performed on BAL cells obtained from 215 well-characterised patients with pulmonary sarcoidosis enrolled in the multicentre Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study. Weighted gene co-expression network analysis and nonparametric statistics were used to analyse genome-wide BAL transcriptome. Validation of results was performed using a microarray expression dataset of an independent sarcoidosis cohort (Freiburg, Germany; n=50).
resultsOur supervised analysis found associations between distinct transcriptional programmes and major pulmonary phenotypic manifestations of sarcoidosis including T-helper type 1 (Th1) and Th17 pathways associated with hilar lymphadenopathy, transforming growth factor-β1 (TGFB1) and mechanistic target of rapamycin (MTOR) signalling with parenchymal involvement, and interleukin (IL)-7 and IL-2 with airway involvement. Our unsupervised analysis revealed gene modules that uncovered four potential sarcoidosis endotypes including hilar lymphadenopathy with increased acute T-cell immune response; extraocular organ involvement with PI3K activation pathways; chronic and multiorgan disease with increased immune response pathways; and multiorgan involvement, with increased IL-1 and IL-18 immune and inflammatory responses. We validated the occurrence of these endotypes using gene expression, pulmonary function tests and cell differentials from Freiburg.
conclusionTaken together, our results identify BAL gene expression programmes that characterise major pulmonary sarcoidosis phenotypes and suggest the presence of distinct disease molecular endotypes.
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