目的:本研究旨在研究激素性股骨头坏死(SANFH)患者的差异基因表达和免疫细胞浸润。确定SANFH的关键基因和免疫细胞,并探讨免疫细胞与SANFH的关系。
方法:从GEO数据库下载高通量基因芯片数据集GSE123568,用R语言分析差异基因表达。利用STRING数据库和Cytoscape软件分析蛋白质相互作用网络,筛选关键基因,并对关键基因进行了富集分析。对SANFH患者的免疫细胞浸润情况进行免疫组化分析和验证。
结果:EP300、TRAF6、STAT1、JAK1、CASP8和JAK2是SANFH发病的关键基因,主要涉及骨髓细胞分化,细胞因子介导的信号通路,肿瘤坏死因子介导的信号通路,以及通过JAK-STAT对肿瘤坏死因子的细胞反应,NOD样受体,toll样受体,和其他信号通路,免疫浸润和免疫组织化学结果显示,SANFH患者记忆B细胞和活化树突状细胞的表达降低,而在相同的SANFH样品中,M1巨噬细胞与单核细胞呈正相关,中性粒细胞与单核细胞表达呈负相关。
结论:EP300、TRAF6、STAT1、JAK1、CASP8和JAK2在SANFH(自发性股骨头坏死)中表现出显著差异。记忆B细胞,激活的树突状细胞,M1巨噬细胞,单核细胞,和中性粒细胞在SANFH中显示异常表达。
OBJECTIVE: The study aimed to study the differential gene expression and immune cell infiltration in patients with steroid-induced necrosis of the femoral head (SANFH), identify the key genes and immune cells of SANFH, and explore the relationship between immune cells and SANFH.
METHODS: The high-throughput gene chip dataset GSE123568 was downloaded from the GEO database, and the differential gene expression was analyzed with the R language. The STRING database and Cytoscape software were used to analyze the protein interaction network and screen key genes, and enrichment analysis was carried out on key genes. The infiltration of immune cells in SANFH patients was analyzed and verified by immunohistochemistry.
RESULTS: EP300, TRAF6, STAT1, JAK1, CASP8, and JAK2 are key genes in the pathogenesis of SANFH, which mainly involve myeloid cell differentiation, cytokine-mediated signaling pathway, tumor necrosis factor-mediated signaling pathway, and cellular response to tumor necrosis factor through JAK-STAT, NOD-like receptor, toll-like receptor, and other signaling pathways, leading to the occurrence of diseases; immune infiltration and immunohistochemical results have shown the expression of memory B cells and activated dendritic cells as reduced in SANFH patients, while in the same SANFH samples, M1 macrophages have been positively correlated with monocytes, and neutrophils have been negatively correlated with monocytes expression.
CONCLUSIONS: EP300, TRAF6, STAT1, JAK1, CASP8, and JAK2 have exhibited significant differences in SANFH (spontaneous osteonecrosis of the femoral head). Memory B cells, activated dendritic cells, M1 macrophages, monocytes, and neutrophils have shown abnormal expression in SANFH.