Exploration of common genomic signatures of systemic juvenile idiopathic arthritis and Kawasaki disease.

objectivesTo explore shared genetic characteristics and potential molecular processes in systemic juvenile idiopathic arthritis (SJIA) and Kawasaki disease (KD), microarray data for both conditions were retrieved and analyzed from the Gene Expression Omnibus (GEO) database.

methodsThe researchers utilized the ExpressAnalystR software to identify the differentially expressed genes (DEGs) shared between the diseases and subsequently pinpointed genes associated with extracellular proteins within this set. Transcription factors (TFs) and their corresponding target genes in single-domain encoding genes (SDEGs) were identified through a comparative analysis of databases such as HumanTFDB and hTFtarget. These gene sets then underwent functional enrichment analysis using the Metascape program. Finally, immune infiltration analysis was performed using CIBERSORT.

resultsThe study identified a total of 204 upregulated and 35 downregulated SDEGs. A network targeting transcription factors revealed four specific TFs (EGR1, BCL6, FOS, and NFE2), which were further examined. The functional enrichment analysis and immune infiltration findings suggest that both adaptive and innate immune systems play key roles in the development of SJIA and KD. Signaling pathways, such as NF-kB, are critical to the pathogenesis of these diseases, alongside biological processes such as tumor necrosis factor (TNF) functions and neutrophil degranulation.

conclusionThe findings of this study provide substantial evidence of the complex and dynamic immune system abnormalities underlying SJIA and KD. A common pathogenic mechanism may involve TNF activity, neutrophil degranulation, and the NF-kB pathway. Additionally, a more detailed investigation into the regulatory roles of EGR1, BCL6, FOS, and NFE2 within this network is essential. Key Points • The study retrieved and analyzed microarray data for both conditions from the Gene Expression Omnibus (GEO) database，to investigate the common genetic patterns and potential molecular processes involved in systemic juvenile idiopathic arthritis (SJIA) and Kawasaki disease (KD). • The study identified a total of 204 upregulated and 35 downregulated SDEGs. A network targeting transcription factors revealed four specific TFs (EGR1, 20BCL6, FOS, and NFE2), which were further examined. • The findings of this study provide substantial evidence of the complex and dynamic immune system abnormalities underlying SJIA and KD. A common pathogenic mechanism may involve TNF activity, neutrophil degranulation, and the NF-kB pathway.