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pmid:40618167

Role of Col1a2 and Postn in left ventricular noncompaction cardiomyopathy.

Huibing Liu · Ling-Bing Meng · Qian Liu

Journal of cardiothoracic surgery · 2025 doi:10.1186/s13019-025-03509-4

Paper

complete

Experiment

complete

Data

partial

Analysis

partial

Execution

absent

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Record details sci_version · id · kind · revision · content_hash · schema · created_at · updated_at · generator
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pmid:40618167
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2026-11-01T20:30:42Z
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title
Role of Col1a2 and Postn in left ventricular noncompaction cardiomyopathy.
doi
10.1186/s13019-025-03509-4
pmid
40618167
authors array · 3 items
[0]
Huibing Liu
[1]
Ling-Bing Meng
[2]
Qian Liu
journal
Journal of cardiothoracic surgery
year
2025
abstract
BACKGROUND: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare myocardial developmental anomaly characterized by incomplete myocardial compact layer development in the left ventricular wall, resulting in a multilayered trabeculated myocardium. METHODS: The datasets GSE71912 and GSE113251 of left ventricular noncompaction cardiomyopathy were downloaded from the gene expression omnibus (GEO) database generated from GPL13912 and GPL11002 platforms. Batch normalization was performed, followed by differentially expressed genes (DEGs), principal component analysis (PCA), functional enrichment analysis, weighted gene co-expression network analysis (WGCNA), construction and analysis of protein-protein interaction (PPI) networks. Heatmaps of gene expression levels were generated. Correlation with core genes was explored through comparative toxicogenomics database (CTD) analysis. RESULTS: A total of 500 DEGs were identified. WGCNA with a soft threshold power of 16 generated three modules. Hierarchical clustering dendrograms were constructed for all genes, identifying 4 core genes (Col1a2, Postn, Timp1, Dcn). These core genes were validated through enrichment analysis using Metascape. Heatmaps revealed high expression of core genes (Col1a2, Postn, Timp1, Dcn) in left ventricular noncompaction cardiomyopathy tissue samples. CTD analysis linked core genes (Col1a2, Postn, Timp1, Dcn) with conditions such as left ventricular hypertrophy, arrhythmias, heart diseases, heart failure, myocardial ischemia, vascular diseases, and inflammation. CONCLUSION: Col1a2 and Postn are significantly upregulated in left ventricular noncompaction cardiomyopathy, suggesting their potential role as molecular targets.
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The Benjamini-Hochberg method was applied to adjust the raw p-values, and the false discovery rate (FDR) was used to calculate fold change (FC).
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title
Deletion of Nkx2-5 in trabecular myocardium reveals the developmental origins of pathological heterogeneity associated with ventricular non-compaction cardiomyopathy
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Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
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Batch normalization was performed, followed by differentially expressed genes (DEGs), principal component analysis (PCA), functional enrichment analysis, weighted gene co-expression network analysis (WGCNA), construction and analysis of protein-protein interaction (PPI) networks. Heatmaps of gene expression levels were generated. Correlation with core genes was explored through comparative toxicogenomics database (CTD) analysis.\nRESULTS: A total of 500 DEGs were identified. WGCNA with a soft threshold power of 16 generated three modules. Hierarchical clustering dendrograms were constructed for all genes, identifying 4 core genes (Col1a2, Postn, Timp1, Dcn). These core genes were validated through enrichment analysis using Metascape. Heatmaps revealed high expression of core genes (Col1a2, Postn, Timp1, Dcn) in left ventricular noncompaction cardiomyopathy tissue samples. CTD analysis linked core genes (Col1a2, Postn, Timp1, Dcn) with conditions such as left ventricular hypertrophy, arrhythmias, heart diseases, heart failure, myocardial ischemia, vascular diseases, and inflammation.\nCONCLUSION: Col1a2 and Postn are significantly upregulated in left ventricular noncompaction cardiomyopathy, suggesting their potential role as molecular targets.", "claims": [{"id": "claim-method", "statement": "The Benjamini-Hochberg method was applied to adjust the raw p-values, and the false discovery rate (FDR) was used to calculate fold change (FC).", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40618167", "locator": "sections[5] \"DEG screening\" paragraph 2", "quote": "The Benjamini-Hochberg method was applied to adjust the raw p-values, and the false discovery rate (FDR) was used to calculate fold change (FC)."}], "state": "complete"}, {"id": "claim-data-access", "statement": "No datasets were generated or analysed during the current study.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40618167", "locator": "sections[28] \"Data availability\" paragraph 2", "quote": "No datasets were generated or analysed during the current study."}], "state": "complete"}, {"id": "claim-target-result", "statement": "A total of 500 DEGs were identified.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:40618167", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "A total of 500 DEGs were identified."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "A total of 500 DEGs were identified.", "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:40618167"], "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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