Erythropoiesis signature and ubiquitin-mediated proteolysis are enriched in systematic juvenile idiopathic arthritis

IF 2.3 4区 医学 Q3 GENETICS & HEREDITY International Journal of Immunogenetics Pub Date : 2022-03-07 DOI:10.1111/iji.12573
Wenping Liu, Dawei Wen, Ziyi Liu, Kunyu Wang, Jibo Wang
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Abstract

Systemic Juvenile Idiopathic Arthritis (sJIA) is a distinctive subtype of Juvenile Idiopathic Arthritis (JIA). The pathogenesis of sJIA is still unclear with the limited treatment options. Although previous bioinformatics analyses have identified some genetic factors underlying sJIA, these studies were mostly single centre with a small sample size and the results were often inconsistent. Herein, we combined two data sets of GSE20307 and GSE21521 and select the matrix of patients diagnosed as sJIA in it for further analysis. The GSE20307 and GSE21521 matrixes downloaded from the Gene Expression Omnibus (GEO) were analysed using online tools 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. 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 mainly involved in malaria and non-small cell lung cancer. Besides, DEGs in main module were involved in ubiquitin-mediated proteolysis. Our study suggests that the erythropoiesis signature indeed exists in sJIA similar to previous reports. And ubiquitin-mediated proteolysis is important in sJIA.

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红细胞生成特征和泛素介导的蛋白水解在系统性幼年特发性关节炎中丰富
系统性幼年特发性关节炎(sJIA)是幼年特发性关节炎(JIA)的一个独特亚型。sJIA的发病机制尚不清楚,治疗方案有限。虽然以前的生物信息学分析已经确定了sJIA的一些遗传因素,但这些研究大多是单中心的,样本量小,结果往往不一致。本文结合GSE20307和GSE21521两组数据集,选取其中诊断为sJIA的患者矩阵进行进一步分析。使用在线工具GEO2R、Venny、metscape、STRING和Cytoscape分析从基因表达Omnibus (GEO)下载的GSE20307和GSE21521基质,鉴定sJIA个体与健康对照之间的差异表达基因(DEGs)、富集途径、蛋白-蛋白相互作用(PPI)、主要模块和枢纽基因。共鉴定出289个重叠基因(包括41个下调基因和248个上调基因)。Hub基因主要与红细胞生成有关。而KEGG (Kyoto Encyclopedia of Genes And Genomes)分析的重叠deg主要涉及疟疾和非小细胞肺癌。此外,主要模块中的deg参与了泛素介导的蛋白水解。我们的研究表明sJIA确实存在红细胞生成特征,这与之前的报道相似。泛素介导的蛋白水解在sJIA中很重要。
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来源期刊
CiteScore
4.70
自引率
0.00%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.
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