Identification and validation of the common pathogenesis and hub biomarkers in Hirschsprung disease complicated with Crohn's disease.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:36248794", "kind": "science-record", "revision": 4, "content_hash": "sha256:87120675e85181ab78d5a577669afda2dd799b627d56d8729befa711fa31fe1e", "created_at": "2026-11-01T18:15:38Z", "updated_at": "2026-11-01T22:07:52Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification and validation of the common pathogenesis and hub biomarkers in Hirschsprung disease complicated with Crohn's disease.", "doi": "10.3389/fimmu.2022.961217", "pmid": "36248794", "authors": ["Jing Wang", "Zejian Li", "Jun Xiao", "Luyao Wu", "Ke Chen", "Tianqi Zhu", "Chenzhao Feng", "Didi Zhuansun", "Xinyao Meng", "Jiexiong Feng"], "journal": "Frontiers in immunology", "year": 2022, "abstract": "Background: Although increasing evidence has supported that Hirschsprung disease (HSCR) is the risk factor for children developing Crohn's disease (CD), the common mechanism of its co-occurrence remains unknown. The purpose of this study is to further explore the underlying mechanism and biomarkers for the co-occurrence of HSCR and CD.\nMethods: The Gene Expression Omnibus (GEO) database was used to obtain gene expression profiles for CD (GSE95095) and HSCR (GSE98502). Following the identification of the shared differentially expressed genes (DEGs) of CD and HSCR, functional annotation, protein-protein interaction (PPI) network creation, and module assembly were performed to discover hub genes. RT-qPCR was performed to validate the expression of the hub genes in HSCR samples. The receiver operating characteristic (ROC) curve was utilized to assess the accuracy of the hub genes as biomarkers in predicting CD in both the training dataset and test dataset.\nResults: A total of 103 common DEGs (50 downregulated genes and 53 upregulated genes) were chosen for further investigation. The importance of chemokines and cytokines in these two disorders is highlighted by functional analysis. MCODE plug identified three important modules, which functionally enriched the immune system process. Finally, nine hub genes were identified using cytoHubba, including IL1B, IL10, CXCL10, ICAM1, EGR1, FCGR3A, S100A12, S100A9, and FPR1. The nine hub genes were mainly enriched in immune- and inflammation-related pathways. External data profiles and RT-qPCR confirmed the expression of the nine hub genes in HSCR and CD. ROC analysis revealed that the nine hub genes had a strong diagnostic value.\nConclusion: Our study reveals the common pathogenesis of HSCR and CD. These hub genes and diagnostic models may provide novel insight for the diagnosis and treatment of HSCR complicated with CD.", "claims": [{"id": "claim-method", "statement": "ROC was plotted using the pROC package to assess the performance of hub genes distinguishing between CD and healthy individuals.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36248794", "locator": "sections[9] \"Diagnostic value of hub genes in Crohn’s disease\" paragraph 2", "quote": "ROC was plotted using the pROC package to assess the performance of hub genes distinguishing between CD and healthy individuals."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The original contributions presented in the study are included in the article/ Supplementary Material . Further inquiries can be directed to the corresponding authors.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36248794", "locator": "sections[21] \"Data availability statement\" paragraph 2", "quote": "The original contributions presented in the study are included in the article/ Supplementary Material . 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