Identification of immune-related genes in diagnosing hypercholesterolemia with myocardial infarction through bioinformatics analysis.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:41567222", "kind": "science-record", "revision": 4, "content_hash": "sha256:a996ec249e5664e0618aeb2aa141c706a0a8e779654baa0fdc256337aa176ec1", "created_at": "2026-11-01T20:31:31Z", "updated_at": "2026-11-01T22:57:46Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification of immune-related genes in diagnosing hypercholesterolemia with myocardial infarction through bioinformatics analysis.", "doi": "10.3389/fimmu.2025.1715216", "pmid": "41567222", "authors": ["Weibin Wu", "Zheng Peng", "Yi Yu", "Zhenming Lin", "Junyu Zhang", "Meifang Lin", "Caisheng Wu", "Qiang Xie"], "journal": "Frontiers in immunology", "year": 2025, "abstract": "Background: Increasing evidence suggests that familial hypercholesterolemia (FHC) exacerbates myocardial infarction (MI). This study aimed to identify possible candidate biomarkers for patients with FHC and MI.\nMethods: The data were obtained from Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were screened using Limma, while module genes were identified through Weighted Gene Co-expression Network Analysis (WGCNA) in GSE48060. Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) enrichment analysis, protein-protein interaction (PPI) network and CIBERSORT methods were performed to explore the intersection genes. A receiver operating characteristic (ROC) curve were employed to evaluate the diagnostic effectiveness, with validation conducted using datasets GSE61144 and RT-qPCR.\nResults: The FHC datasets included 656 DEGs, while there were 956 DEGs and 90 module genes in MI datasets. There were 49 overlapping DEGs between FHC and MI, which were associated with immune functions. Additionally, immune infiltration analysis revealed disturbances in immune cell populations. There were 13 candiate hub genes were screen after PPI network analysis. MCEMP1 were identified as the real hub genes after the intersection of the candiate hub genes and module genes in FHC and MI. ROC curve analysis indicated high diagnostic ability of MCEMP1 to detect MI in GSE61144 datasets. In addition, RT-qPCR was used to detect MCEMP1 expression in ApoE-/- mice, and the results were consistent with the bioinformatics analysis.\nConclusion: MCEMP1 were identified and provided new insights into the diagnosis and treatment of FHC with MI.", "claims": [{"id": "claim-method", "statement": "Differentially expressed genes (DEGs) were screened using Limma, while module genes were identified through Weighted Gene Co-expression Network Analysis (WGCNA) in GSE48060.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:41567222", "locator": "sections[0] \"Abstract\" paragraph 2", "quote": "Differentially expressed genes (DEGs) were screened using Limma, while module genes were identified through Weighted Gene Co-expression Network Analysis (WGCNA) in GSE48060."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The datasets presented in this study can be found in online repositories. The names of the repository/repositories and accession number(s) can be found below: https://www.ncbi.nlm.nih.gov/, GSE13985 https://www.ncbi.nlm.nih.gov/, GSE48060 https://www.ncbi.nlm.nih.gov/, GSE61144.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:41567222", "locator": "sections[23] \"Data availability statement\" paragraph 2", "quote": "The datasets presented in this study can be found in online repositories. The names of the repository/repositories and accession number(s) can be found below: https://www.ncbi.nlm.nih.gov/, GSE13985 https://www.ncbi.nlm.nih.gov/, GSE48060 https://www.ncbi.nlm.nih.gov/, GSE61144."}], "state": "complete"}, {"id": "claim-target-result", "statement": "Forty-nine DEGs overlapped between FHC and MI, and MCEMP1 was identified as the real hub gene.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:41567222", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "There were 49 overlapping DEGs between FHC and MI, which were associated with immune functions."}, {"asset": "source:pmid:41567222", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "MCEMP1 were identified as the real hub genes after the intersection of the candiate hub genes and module genes in FHC and MI."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "Forty-nine DEGs overlapped between FHC and MI, and MCEMP1 was identified as the real hub gene.", "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:41567222"], "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. This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE13985"], "outputs": ["the source data with its repository provenance"], "instruments": [], "reagents": []}, {"id": "run_analysis", "order": 3, "name": "Run the published analysis", "kind": "analysis", "state": "complete", "blocked_on": null, "description": "Apply the paper's statistical method to the resolved series and compare the result with the published target.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE13985"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:41567222", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.3389/fimmu.2025.1715216", "sha256": "sha256:3bade73c27bb5a9996ad5a38f32edf0ef20fdc2590985322db6116b59e5271a7", "bytes": 34054, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "10.3389/fimmu.2025.1715216", "version": null, "note": "Full article fetched from PMC; the checksum covers the rendered section body, not the original XML bytes.", "structure": {"pmcid": "PMC12815719", "source": "europe_pmc_fulltext", "coverage": "whole_body", "text_hash_scope": "rendered_section_body"}}, {"id": "data:geo:GSE13985", "role": "raw", "format": "geo-series", "media_type": "application/vnd.ncbi.geo-series+json", "uri": "https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE13985", "sha256": null, "bytes": null, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "GSE13985", "version": null, "note": "The datasets presented in this study can be found in online repositories. 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