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pmid:41396114
Bioinformatics analysis identifies candidate biomarkers associated with sarcoidosis.
Linling Jin · Chunfeng Pan · Yujie Sun · Jiayi Zhang · Weiping Xie · Mengyu He
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2025 doi:10.36141/svdld.v42i4.17074
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Experiment
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Data
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Analysis
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Execution
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Complete file
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The aim of the study is to identify potential biomarkers and explore the infiltration of immune cells associated with sarcoidosis. Methods: The datasets of GSE19314, GSE83456, and GSE37912 were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were screened by comparing sarcoidosis samples to healthy controls in GSE19314 and GSE83456. Functional enrichment analyses and protein-protein interactions (PPIs) network construction were performed to elucidate the functional roles of the DEGs. Hub genes were identified through PPI network analysis. The GSE37912 dataset was used as a validation set. Immune cell infiltration in sarcoidosis patients was investigated. Furthermore, the trehalose 6,6'-dimycolate-granuloma (TDM)-induced granuloma experimental model was employed to resemble human sarcoid granulomas, and the expression of hub genes in lung tissues was detected by qRT-PCR.\nRESULTS: A total of 71 common DEGs, including 53 upregulated DEGs and 18 downregulated DEGs, were identified between sarcoidosis patients and controls. The signal transducer and activator of transcription 1 (STAT1), C-X-C motif chemokine ligand 10 (CXCL10) and basic leucine zipper ATF-like transcription factor 2 (BATF2) were considered as hub genes, showing promising diagnostic potential for sarcoidosis. Immune infiltration analysis indicated that compared with the controls, sarcoidosis samples exhibited increased infiltration of activated NK cells, monocytes, macrophage, activated dendritic cells and resting mast cells. In the TDM-induced lung granuloma model, STAT1, CXCL10 and BATF2 expression was upregulated in sarcoidosis lung tissue.\nCONCLUSIONS: Bioinformatics analysis indicated that STAT1, CXCL10 and BATF2 may as candidate biomarkers associated with sarcoidosis.", "claims": [{"id": "claim-method", "statement": "To screen the disparities between the sarcoidosis group and the control group, we utilized the R package “limma” to standardize datasets and uncover the DEGs in GSE19314 and GSE83456 (13). Genes with fold change (|logFC|) >0.5 and adjusted P value <0.05 using the false discovery rate (FDR) were identified as common DEGs.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:41396114", "locator": "sections[4] \"2.2 Identification of DEGs\" paragraph 2", "quote": "To screen the disparities between the sarcoidosis group and the control group, we utilized the R package “limma” to standardize datasets and uncover the DEGs in GSE19314 and GSE83456 (13). 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Genes with fold change (|logFC|) >0.5 and adjusted P value <0.05 using the false discovery rate (FDR) were identified as common DEGs."}}, {"id": "method-2", "family": "network_analysis", "specific": "ppi_network", "label": "Network / pathway analysis", "dsl_operations": ["build_graph", "centrality_scores", "pathway_enrich"], "missing_operations": [], "expressible": true, "parameters": {}, "data_shapes": ["edge_list"], "evidence": {"score": 0.7, "band": "medium", "quote": "PPI"}}], "targets": [], "gaps": []}, "capability": {"state": "complete", "requirements": [{"capability_id": "capability:computational_analysis", "label": "Computational analysis platform", "assay_families": ["meta_analysis", "machine_learning", "survival_analysis", "statistical_regression", "pca", "molecular_docking", "network_analysis", "differential_expression", "gwas"], "availability_state": "owned", "tier_unlocked": "R1", "candidate": "Automated Assays Laravel application and simulated adapters"}], "gaps": []}, "readiness": {"state": "complete", "tier": "R1", "blocking_axis": "none", "blocked_on": "nothing:replicable_now", "axes": {"method": {"tier": "R1", "expressible": true, "required_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "missing_operations": [], "basis": "The paper names the method it used and the corpus's method extractor maps it onto the DSL catalogue: limma_voom."}, "capability": {"tier": "R1", "capability_id": "capability:computational_analysis", "availability_state": "owned", "basis": "The computational analysis is owned. The physical bench the paper used is not, so a physical validation cannot be run here."}, "data": {"tier": "R1", "reachable": true, "accessions": ["GSE19314", "GSE83456", "GSE37912"], "resolved_accessions": ["GSE19314", "GSE83456", "GSE37912"], "statements": ["The datasets used and analyzed in the current study are available from the corresponding author upon reasonable request."], "basis": "The paper names GSE19314, GSE83456, GSE37912 in NCBI-Gene Expression Omnibus (GEO) and the accession resolves in the repository. No dataset was downloaded and no licence was read."}}, "can_run": {"dsl_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "assets": ["source:pmid:41396114", "data:geo:GSE19314"], "steps": ["run_analysis"]}, "must_build": {"dsl_operations": [], "converters": [], "readers": [], "capabilities": [], "data_gaps": ["data:geo:GSE19314"]}, "gaps": []}, "review": {"state": "partial", "machine_critique": {"kind": "extraction_review", "reader": {"model": "MiniMax-M3.1-Flash", "provider": "minimax", "provider_family": "minimax", "read_at": "2026-11-01T20:08:25Z", "independence": "single_reader"}, "evidence_check": {"method": "verbatim", "availability": "verbatim"}, "calls": 5, "usage": {"prompt_tokens": 10642, "completion_tokens": 1641, "cached_tokens": 256}}, "human_critique": null, "stages": [{"id": "extraction", "state": "complete", "reader": "MiniMax-M3.1-Flash", "provider": "minimax"}], "gaps": ["review.independent_reader", "review.machine_critique", "review.human_critique"]}, "execution": {"state": "absent", "status": "not_run", "mode": null, "runs": [], "gaps": ["execution.not_run"]}, "provenance": {"entities": [{"id": "pmid:41396114", "type": "paper", "label": "pmid:41396114"}, {"id": "source:pmid:41396114", "type": "manuscript", "label": "PMID 41396114 full text"}, {"id": "data:geo:GSE19314", "type": "dataset", "label": "GEO GSE19314"}], "activities": [{"id": "activity-reading-sci-2026-11-01", "type": "classification", "used": [{"id": "pmid:41396114", "type": "paper", "label": "pmid:41396114"}, {"id": "source:pmid:41396114", "type": "manuscript", "label": "PMID 41396114 full text"}, {"id": "data:geo:GSE19314", "type": "dataset", "label": "GEO GSE19314"}], "agent": "agent:corpus-assay-engine"}, {"id": "activity-read-41396114", "type": "extraction", "used": ["source:pmid:41396114"], "agent": "agent:minimax-reader"}, {"id": "activity-resolve-GSE19314", "type": "accession_resolution", "used": ["data:geo:GSE19314"], "agent": "agent:corpus-assay-engine"}], "agents": [{"id": "agent:corpus-assay-engine", "type": "software", "label": "Corpus assay engine"}, {"id": "agent:minimax-reader", "type": "software", "label": "MiniMax literature reader"}], "source_run_id": "reading-sci-2026-11-01", "dsl_catalogue_fingerprint": "343fb30756ba6ec3", "capability_table_fingerprint": "2cb3e42f047d2ecf", "snapshot_id": "ba34b49490d9bfaf"}, "lineage": {"parent_id": "pmid:41396114", "parent_hash": "sha256:723f5c3be1f08664d1e9f8a02c71eb610663a2cd5dd1176e24cfb62430fb5554", "fork_of": null, "generation": 3}, "gaps": ["asset:data:geo:GSE19314 licence not read", "asset:data:geo:GSE19314 not downloaded", "asset:data:geo:GSE37912 licence not read", "asset:data:geo:GSE37912 not downloaded", "asset:data:geo:GSE83456 licence not read", "asset:data:geo:GSE83456 not downloaded", "execution.not_run", "review.human_critique", "review.independent_reader", "review.machine_critique"], "assays": [{"role": "analysis", "definition_id": "differential_expression", "definition_version": "f2132e96ae6c7a4e", "definition_digest": null, "required_operations": ["normalise_counts", "differential_expression_fit", "fdr_bh"], "support_state": "supported", "source_hashes": {"dsl_catalogue": "f2132e96ae6c7a4e"}, "confidence": 1.0, "evidence": ["To screen the disparities between the sarcoidosis group and the control group, we utilized the R package “limma” to standardize datasets and uncover the DEGs in GSE19314 and GSE83456 (13). Genes with fold change (|logFC|) >0.5 and adjusted P value <0.05 using the false discovery rate (FDR) were identified as common DEGs."], "order_basis": "analysis_only", "id": "assay:1"}]}