Role of Col1a2 and Postn in left ventricular noncompaction cardiomyopathy.

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.