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基于高通量数据的骨肉瘤相关核心基因的挖掘和鉴定分析
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Abstract:
背景：骨肉瘤是源于间充质细胞的恶性肿瘤，起病隐匿，好发于青少年，早期症状仅表现为关节肿胀和疼痛，且进展迅速，出现远处转移时其生存率大幅降低。为了筛选骨肉瘤发生发展的潜在基因，本研究从GEO数据库中获得GSE99671和GSE197158进行生物信息学分析。方法：首先，利用R包进行去批次处理，再利用R包“limma”识别差异表达基因(DEGs)，通过GO (Gene Ontology)和KEGG (Kyoto Encyclopedia of Genes and Genomes)分析对差异表达基因(DEGs)进行功能注释。利用STRING工具构建蛋白–蛋白相互作用(PPI)网络，挖掘出最重要的模块和核心基因。结果：共鉴定出275个差异表达基因。差异表达基因的定位主要集中在细胞外基质和细胞外骨架中，主要定位于细胞外基质胶原纤维中和分泌小泡内，功能变化主要集中在细胞识别，细胞膜、骨架等结构形成和多种酶或转运体如糖胺聚糖结合和无机阳离子跨膜转运体活性等方面。CTSG、MPO、ELANE、DEFA4、CAMP、LTF、PRTN3、MMP8、LCN2、BPI基因被鉴定为核心基因。结论：综上所述，本研究中发现的差异表达基因和核心基因有可能成为潜在的诊断和治疗靶点。
Background: Osteosarcoma is a malignant tumor derived from mesenchymal cells. Its onset is oc-cult. It often occurs in adolescents. Its early symptoms are only joint swelling and pain, and its pro-gress is rapid. Its survival rate is greatly reduced when distant metastasis occurs. In order to screen the potential genes for the occurrence and development of osteosarcoma, GSE99671 and GSE197158 were obtained from geo database for bioinformatics analysis. Methods: Firstly, the R package was used for de batch processing, and then the R package “limma” was used to identify dif-ferentially expressed genes (DEGs). The function of the differentially expressed genes (DEGs) was annotated by go (gene ontology) and KEGG (Kyoto Encyclopedia of genes and genes) analysis. Using string tool to construct protein protein interaction (PPI) network, the most important modules and core genes were mined. Results: 275 differentially expressed genes were identified. The location of differentially expressed genes is mainly concentrated in the extracellular matrix and extracellular skeleton, mainly in the extracellular matrix collagen fibers and secretory vesicles. The functional changes are mainly concentrated in cell recognition, the formation of cell membrane, skeleton and other structures, the binding of a variety of enzymes or transporters such as carbohydrates and the activity of inorganic cationic transmembrane transporters. CTSG, MPO, ELANE, DEFA4, CAMP, LTF, PRTN3, MMP8, LCN2, BPI were identified as hub genes. Conclusion: In conclusion, the differentially expressed genes and core genes found in this study may become potential diagnostic and therapeu-tic targets.
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