Identification of GTF2I as an immune-associated factor in bronchopulmonary dysplasia via integrated transcriptomics and expression validation

Bronchopulmonary dysplasia (BPD) is a chronic lung disease in premature infants characterized by lung development disorders and immune-mediated damage. This study aimed to reveal the key molecular regulatory mechanisms underlying BPD through integrated transcriptomic analysis and expression validation. Integrated transcriptomic analysis, including differential expression analysis, weighted gene co-expression network analysis (WGCNA), and machine learning approaches (LASSO and SVM-RFE), was performed to identify key regulatory molecules. Expression of the transcription factor GTF2I was further validated in plasma samples from preterm infants and in a hyperoxia-induced cellular model of BPD. We identified 343 differentially expressed genes and 215 miRNAs in BPD that were predominantly enriched in immune-related processes, particularly the B cell receptor signaling pathway, suggesting a critical role for B cell-mediated immune responses in the pathogenesis and progression of BPD. GTF2I was significantly upregulated in BPD and was identified as a candidate factor associated with immune-related gene networks. Further analyses identified multiple potential drug targets, thereby expanding the possibility of a precise treatment for BPD. This study highlights the crucial role of immune dysregulation in the pathogenesis of BPD. It suggests GTF2I as a candidate biomarker involved in BPD-related immune processes, warranting further mechanistic investigation and functional validation. The therapeutic targets identified offer new insights into precise intervention strategies for BPD.