Identification of Potential Diagnostic Biomarkers and Biological Pathways in Hypertrophic Cardiomyopathy Based on Bioinformatics Analysis.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:35328083", "kind": "science-record", "revision": 5, "content_hash": "sha256:5c29c243cd671178a37c30011d27d8b9c84b768811ff7a6bc2ca8ae723117671", "created_at": "2026-11-01T18:14:07Z", "updated_at": "2026-11-01T22:48:43Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification of Potential Diagnostic Biomarkers and Biological Pathways in Hypertrophic Cardiomyopathy Based on Bioinformatics Analysis.", "doi": "10.3390/genes13030530", "pmid": "35328083", "authors": ["Tingyan Yu", "Zhaoxu Huang", "Zhaoxia Pu"], "journal": "Genes", "year": 2022, "abstract": "Hypertrophic cardiomyopathy (HCM) is a genetic heterogeneous disorder and the main cause of sudden cardiac death in adolescents and young adults. This study was aimed at identifying potential diagnostic biomarkers and biological pathways to help to diagnose and treat HCM through bioinformatics analysis. We selected the GSE36961 dataset from the Gene Expression Omnibus (GEO) database and identified 893 differentially expressed genes (DEGs). Subsequently, 12 modules were generated through weighted gene coexpression network analysis (WGCNA), and the turquoise module showed the highest negative correlation with HCM (cor = −0.9, p-value = 4 × 10−52). With the filtering standard gene significance (GS) < −0.7 and module membership (MM) > 0.9, 19 genes were then selected to establish the least absolute shrinkage and selection operator (LASSO) model, and LYVE1, MAFB, and MT1M were finally identified as key genes. The expression levels of these genes were additionally verified in the GSE130036 dataset. Gene Set Enrichment Analysis (GSEA) showed oxidative phosphorylation, tumor necrosis factor alpha-nuclear factor-κB (TNFα-NFκB), interferon-gamma (IFNγ) response, and inflammatory response were four pathways possibly related to HCM. In conclusion, LYVE1, MAFB, and MT1M were potential biomarkers of HCM, and oxidative stress, immune response as well as inflammatory response were likely to be associated with the pathogenesis of HCM.", "claims": [{"id": "claim-method", "statement": "The raw data were normalized and used to identify DEGs between HCM and control groups by the “limma” package in R software (version 3.6.0) [7].", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:35328083", "locator": "sections[4] \"2.2. Identification of DEGs\" paragraph 2", "quote": "The raw data were normalized and used to identify DEGs between HCM and control groups by the “limma” package in R software (version 3.6.0) [7]."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The data used in this study are from the GSE36961 and GSE130036 datasets of the GEO database.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:35328083", "locator": "sections[22] \"Data Availability Statement\" paragraph 2", "quote": "The data used in this study are from the GSE36961 and GSE130036 datasets of the GEO database."}], "state": "complete"}, {"id": "claim-target-result", "statement": "In conclusion, LYVE1, MAFB, and MT1M were potential biomarkers of HCM, and oxidative stress, immune response as well as inflammatory response were likely to be associated with the pathogenesis of HCM.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:35328083", "locator": "sections[0] \"Abstract\" paragraph 1", "quote": "In conclusion, LYVE1, MAFB, and MT1M were potential biomarkers of HCM, and oxidative stress, immune response as well as inflammatory response were likely to be associated with the pathogenesis of HCM."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "In conclusion, LYVE1, MAFB, and MT1M were potential biomarkers of HCM, and oxidative stress, immune response as well as inflammatory response were likely to be associated with the pathogenesis of HCM.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:35328083"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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