Identification and validation of key genes commonly expressed and upregulated in systemic sclerosis-associated lung...

Systemic sclerosis (SSc) is a rare and heterogeneous connective tissue disease. Lung diseases, including interstitial lung disease (ILD), pulmonary fibrosis (PF), and pulmonary artery hypertension (PAH), represent a significant and often fatal complication of SSc. The objective of the present study was to identify hub genes, and to establish a theoretical foundation for the pursuit of potential therapeutic targets. The data employed in this study were sourced from the Gene Expression Omnibus (GEO) data-base. The functional enrichment analysis revealed the presence of several enriched pathways that were commonly involved in SSc-ILD, SSc-PH, and SSc-PAH. These pathways included biological adhesion, cell migration, collagen containing extracellular matrix, and others. Subsequently, seven common DEGs and twelve hub genes were identified as being upregulated in all three datasets. Additionally, five pivotal genes (COL1A2, COL3A1, COL15A1, THY-1, and CCL19) demonstrated notable concordance between the two methods and were thus validated as being upregulated in the lung tissues of SSc-PF mice by qPCR. The biological adhesion, cell migration, and collagen biosynthesis-related pathways were found to be closely associated with SSc-ILD, SSc-PH, SSc-PAH, and COL1A2, COL3A1, COL15A1, THY-1, and CCL19. These may serve as key genes for early warning, prevention, and treatment of systemic sclero-sis-associated lung diseases.