ArticlePloS one2012
Peripheral blood gene expression as a novel genomic biomarker in complicated sarcoidosis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Declining Pulmonary Function in Interstitial Lung Disease Linked to Lymphocyte Dysfunction.American journal of respiratory and critical care medicine · 2020Pooled it
- Evaluation of gene expression classification studies: factors associated with classification performance.PloS one · 2014Pooled it
- Low Dose Carbon Monoxide Exposure in Idiopathic Pulmonary Fibrosis Produces a CO Signature Comprised of Oxidative Phosphorylation Genes.Scientific reports · 2019Trial
- Sarcoidosis extent relates to molecular variability.Clinical and experimental immunology · 2017Trial
- Bioinformatics analysis identifies candidate biomarkers associated with sarcoidosis.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2025Article
- Janus kinase inhibitors in pulmonary and extra-pulmonary sarcoidosis: A case series and a systematic review of the literature.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2025Article
- Differential Transcriptomic Features of Peripheral Blood Mononuclear Cells in Pulmonary Sarcoidosis with and Without Extrapulmonary Lesions in an East Asian Population.Biomedicines · 2025Article
- Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis.Frontiers in medicine · 2024Article
- Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.European journal of respiratory medicine · 2023Article
- SHP2 promotes sarcoidosis severity by inhibiting SKP2-targeted ubiquitination of TBET in CD8Science translational medicine · 2023Article
- Molecularly Targeted Therapies for Inflammatory Cutaneous Granulomatous Disorders: A Review of the Evidence and Implications for Understanding Disease Pathogenesis.JID innovations : skin science from molecules to population health · 2023Review
- Functional link between sarcoidosis-associated gene variants and quantitative levels of bronchoalveolar lavage fluid cell types.Frontiers in medicine · 2023Article
- Performance of a Computational Phenotyping Algorithm for Sarcoidosis Using Diagnostic Codes in Electronic Medical Records: Case Validation Study From 2 Veterans Affairs Medical Centers.JMIR formative research · 2022Article
- Identification of key regulators in Sarcoidosis through multidimensional systems biological approach.Scientific reports · 2022Article
- Adalimumab in the treatment of cardiac sarcoidosis: Single center case series and narrative literature review.Respiratory medicine case reports · 2022Article
- Altered transcription factor targeting is associated with differential peripheral blood mononuclear cell proportions in sarcoidosis.Frontiers in immunology · 2022Article
- Biochemical and genomic identification of novel biomarkers in progressive sarcoidosis: HBEGF, eNAMPT, and ANG-2.Frontiers in medicine · 2022Article
- The landscape of transcriptomic and proteomic studies in sarcoidosis.ERJ open research · 2022Article
- Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Pulmonary Sarcoidosis.Frontiers in medicine · 2022Article
- A transcriptomics-based meta-analysis identifies a cross-tissue signature for sarcoidosis.Frontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Sarcoidosis, a systemic granulomatous syndrome invariably affecting the lung, typically spontaneously remits but in ~20% of cases progresses with severe lung dysfunction or cardiac and neurologic involvement (complicated sarcoidosis). Unfortunately, current biomarkers fail to distinguish patients with remitting (uncomplicated) sarcoidosis from other fibrotic lung disorders, and fail to identify individuals at risk for complicated sarcoidosis. We utilized genome-wide peripheral blood gene expression analysis to identify a 20-gene sarcoidosis biomarker signature distinguishing sarcoidosis (n = 39) from healthy controls (n = 35, 86% classification accuracy) and which served as a molecular signature for complicated sarcoidosis (n = 17). As aberrancies in T cell receptor (TCR) signaling, JAK-STAT (JS) signaling, and cytokine-cytokine receptor (CCR) signaling are implicated in sarcoidosis pathogenesis, a 31-gene signature comprised of T cell signaling pathway genes associated with sarcoidosis (TCR/JS/CCR) was compared to the unbiased 20-gene biomarker signature but proved inferior in prediction accuracy in distinguishing complicated from uncomplicated sarcoidosis. Additional validation strategies included significant association of single nucleotide polymorphisms (SNPs) in signature genes with sarcoidosis susceptibility and severity (unbiased signature genes - CX3CR1, FKBP1A, NOG, RBM12B, SENS3, TSHZ2; T cell/JAK-STAT pathway genes such as AKT3, CBLB, DLG1, IFNG, IL2RA, IL7R, ITK, JUN, MALT1, NFATC2, PLCG1, SPRED1). In summary, this validated peripheral blood molecular gene signature appears to be a valuable biomarker in identifying cases with sarcoidoisis and predicting risk for complicated sarcoidosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.