Genetic Characteristics of Systematic Juvenile Idiopathic Arthritis and The Bioinformatics Basis for Treatment

Objective Systemic Juvenile Idiopathic Arthritis (sJIA) is a distinctive subtype of Juvenile Idiopathic Arthritis (JIA). The pathogenesis of sJIA is still unclear with the treatment options limited. Although previous bioinformatics analyses have identified some genetic factors underlying sJIA, these studies were mostly single center with a small sample size and the results were often inconsistent. Herein, we combined two datasets of GSE20307 and GSE21521 and select the matrix of patients diagnosed as sJIA in it for further analysis. Methods The GSE20307 and GSE21521 matrixs downloaded from the Gene Expression Omnibus (GEO) were analyzed using online-tool GEO2R, Venny, Metascape, STRING, and Cytoscape to identify differentially expressed genes (DEGs), enrichment pathways, protein-protein interaction (PPI), main Module and hub genes between sJIA individuals and healthy controls. Results A total of 289 overlapping genes (consisting of 41 downregulated genes and 248 upregulated genes) were identified. Hub genes were primarily related to erythropoiesis. And the KEGG (Kyoto Encyclopedia of Genes and Genomes) analysis of overlapping DEGs were maily involved in Malaria and non-small cell lung cancer. Besides, DEGs in main module were involved in ubiquitin mediated proteolysis. Conclusions our study suggests that the erythropoiesis signature indeed exists in sJIA similar to previous reports. And combining previous research and our results, we provide a basis for the application of proteasome inhibitors, hydroxychloroquine and kinase inhibitors in patients with sJIA from the perspective of bioinformatics.