山西医科大学学报2025，Vol.56Issue(6)：611-616,6.DOI:10.13753/j.issn.1007-6611.2025.06.004
基于GEO分析MS4A4A基因表达对骨肉瘤患者预后的影响
Effect of MS4A4A expression on prognosis of osteosarcoma based on GEO database
摘要
Abstract
Objective To identify differentially expressed genes(DEGs)between osteosarcoma and normal osteoblasts based on the Gene Expression Omnibus(GEO)database,and investigate the effect of MS4A4A gene on osteosarcoma prognosis and its underlying mechanisms.Methods Gene expression datasets of osteosarcoma tissues(GSE12865,GSE14359,GSE21257)were obtained from the GEO database to analyze DEGs and generate volcano plots using bioinformatics method.Cross-analysis was performed with immune-related genes from the IMMPORT shared Data and M-Sig-DB databases.Functional annotation of DEGs was conducted using Gene Ontology(GO),and pathway enrichment analysis was performed using the Kyoto Encyclopedia of Genes and Genomes(KEGG).Ka-plan-Meier analysis was used for survival curve plotting.Results A total of 1 013 DEGs were identified between normal osteoblasts and osteosarcoma samples,including 467 upregulated and 546 downregulated genes.GO functional annotation revealed that the DEGs were primarily enriched in biological processes such as regulation of kinase activity and metabolism,cytokine binding,and modula-tion of monooxygenase and dehydrogenase activities.KEGG pathway analysis indicated that the DEGs were significantly associated with the Rap1 signaling pathway,MAPK signaling pathway,Ras signaling pathway,EGFR tyrosine kinase inhibitor resistance,and PI3K-Akt signaling pathway.From the IMMPORT shared Data and M-Sig-DB databases,2 483 DEGs and 8 379 immune-related genes were identified,respectively.A total of 104 common immune-related DEGs were selected for further analysis,among which MS4A4A exhibited significant upregulation(P<0.05).Based on long-term follow-up data from 53 osteosarcoma patients in the GSE21257 data-set,Kaplan-Meier analysis showed that the patients with low MS4A4A expression had a better prognosis than those with high MS4A4A expression.MS4A4A expression was positively correlated with the M2 macrophage marker MRC1(r=0.676 4,P<0.05),and negatively correlated with ITGAX expression(r=-0.261 9,P=0.016 8).Conclusion MS4A4A is significantly overexpressed in osteosarcoma tissues,and it regulates macrophage polarization and promotes the formation of M2 macrophages.It can serve as an independent risk factor for poor prognosis in osteosarcoma patients and holds potential value for prognostic diagnosis.关键词
骨肉瘤/MS4A4A/转录因子/巨噬细胞极化/生物信息学分析/预后Key words
osteosarcoma/MS4A4A/transcription factors/macrophage polarization/bioinformatics analysis/prognosis分类
医药卫生引用本文复制引用
毛天骄,胡文浩,张雪松..基于GEO分析MS4A4A基因表达对骨肉瘤患者预后的影响[J].山西医科大学学报,2025,56(6):611-616,6.基金项目
国家自然科学基金青年科学基金项目(12404501) （12404501）
