Objective To explore the key genes, pathways and immune cell infiltration of bicuspid aortic valve (BAV) with ascending aortic dilation by bioinformatics analysis. Methods The data set GSE83675 was downloaded from the Gene Expression Omnibus database (up to May 12th, 2022). Differentially expressed genes (DEGs) were analyzed and gene set enrichment analysis (GSEA) was conducted using R language. STRING database and Cytoscape software were used to construct protein-protein interaction (PPI) network and identify hub genes. The proportion of immune cells infiltration was calculated by CIBERSORT deconvolution algorithm. Results There were 199 DEGs identified, including 19 up-regulated DEGs and 180 down-regulated DEGs. GSEA showed that the main enrichment pathways were cytokine-cytokine receptor interaction, pathways in cancer, regulation of actin cytoskeleton, chemokine signaling pathway and mitogen-activated protein kinase signaling pathway. Ten hub genes (EGFR, RIMS3, DLGAP2, RAPH1, CCNB3, CD3E, PIK3R5, TP73, PAK3, and AGAP2) were identified in PPI network. CIBERSORT analysis showed that activated natural killer cells were significantly higher in dilated aorta with BAV. Conclusions These identified key genes and pathways provide new insights into BAV aortopathy. Activated natural killer cells may participate in the dilation of ascending aorta with BAV.
