Exploration of common genomic signatures of Systemic juvenile rheumatoid arthritis and Kawasaki disease

Author:

Zhong Shiling1,Wu Ling1,Li Yunyan1,Chen Yuanling1,shen Mengjiao1

Affiliation:

1. Ningbo University Affiliated Women and Children's Hospital

Abstract

Abstract

To investigate the common genetic patterns and possible molecular processes involved in systemic juvenile idiopathic arthritis (SJIA) and Kawasaki disease (KD). The methodology involved the retrieval and analysis of microarray data for SJIA and KD from the Gene Expression Omnibus (GEO) database. The researchers employed the ExpressAnalystR software to ascertain the differentially expressed genes (DEGs) that were shared, and subsequently identified genes associated with extracellular proteins within this set. Transcription factors (TFs) and their corresponding target genes in single-domain encoding genes (SDEGs) were acquired by a comparative analysis of databases such as HumanTFDB and hTFtarget. Subsequently, the gene sets that had been previously identified underwent functional enrichment analysis using the metascape program. Ultimately, the analysis of immune infiltration was conducted using CIBERSORT. The study revealed a total of 204 up-regulated and 35 down-regulated SDEGs. Through the construction of a network targeting transcription factors (TFs), 4 specific TFs (EGR1, BCL6, FOS, and NFE2) were identified and further screened. Functional enrichment analysis and immune infiltration findings indicate that both the adaptive and innate immune systems play significant roles in the development of systemic juvenile idiopathic arthritis (SJIA) and Kawasaki disease (KD). Signaling pathways, such as NF-kB, are crucial in the pathogenesis of these conditions, along with biological processes like tumor necrosis factor (TNF) functions and neutrophil degranulation. The findings of our investigation provided comprehensive evidence regarding the intricate and adaptable nature of the immune system abnormalities associated with SJIA and KD. The same pathogenic mechanism may involve the actions of TNF, neutrophil degranulation, and the NF-kB pathway. Furthermore, it is imperative to carry out a more comprehensive investigation of the regulatory functions of EGR1, BCL6, FOS, and NFE2 within this network.

Publisher

Research Square Platform LLC

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