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基于生物信息学分析COL1A1在脑胶质瘤中的表达及临床意义

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目的 研究COL1A1基因在脑胶质瘤中的表达情况并分析该基因与脑胶质瘤患者临床特征及预后的关系,同时探究COL1A1的免疫抑制靶点,为今后脑胶质瘤免疫治疗研究提供理论基础.方法 从中国胶质瘤基因组图谱(CGGA)、癌症和肿瘤基因图谱(TCGA)官方数据库中下载脑胶质瘤的基因表达谱与临床资料数据.使用GraphPad Prism 9软件分析COL1A1与脑胶质瘤分期关系.使用R4.1.2软件及R Studio软件绘制Pheatmap、Heat-map、Ggplot2、Circos 图分析COL1A1的表达与脑胶质瘤患者临床信息、预后以及免疫抑制靶点的关系.使用GO、KEGG富集分析研究COL1A1基因功能.使用GSVA富集方法分析脑胶质瘤中特定基因集的富集分数.使用STRING数据库分析与COL1A1基因相互作用的基因网格数.结果 WHO Ⅲ期患者的COL1A1基因表达量显著高于 WHO Ⅰ 期和 WHO Ⅱ 期的患者,差异均有统计学意义(DataSetmRNAseq_325,P<0.0001;DataSetmRNAseq_693,P=0.0018).随着 COL1A1 表达升高,Non-codel 1P19q、Wildtype IDH、un-methylated MGMT 等胶质瘤特异性标志物的表达也更密集.Heatmap生存分析图显示,高表达COL1A1基因的患者总体生存率低于低表达患者.GO分析与KEGG分析结果显示,COL1A1基因可能通过细胞胞外区(extracellular region)、内质网内腔(endoplasmic reticulum lumen)、细胞外间隙(extracellular space)、细胞外基质结构成分(extracellular matrix structural constituent)、细胞胶原结合(colla-gen binding)、整合素结合蛋白(integrin binding)发挥其生物学功能.GSVA富集分析结果符合GO、KEGG分析结果,COL1A1基因表达与上述基因功能呈正相关.Circos图提示,与脑胶质瘤最密切的免疫检查点是信号调节蛋白(SIRP).STRING数据库结果显示,与COL1A1基因相互作用的基因共有10个.结论 COL1A1基因与脑胶质瘤分期密切相关,与患者预后、疾病的恶性进展特征有关,可作为胶质瘤潜在的分子标志物.
Expression and clinical significance of COL1A1 in cerebral gloma based on bioinformatics analysis
Objective To study the expression of COL1A1 gene in brain glioma,analyze relationship between COL1A1 gene and clinical characteristics and prognosis of patients with brain glioma,and explore the immunosuppressive target of COL1Al,so as to provide theoretical basis for future researches on immunotherapy of brain glioma.Methods The gene ex-pression profile and clinical data of brain glioma were downloaded from the official database of Chinese glioma genome atlas(CGGA)and the cancer genome atlas(TCGA).Graph Pad Prism 9 software was used to analyze the relationship between COL1A1 and brain glioma staging.R4.1.2 software and R Studio software were used to draw Pheatmap,Heatmap,Ggplot2 and Circos diagrams to analyze the relationship between COL1A1 expression and clinical information,prognosis of patients with glioma and the immunosuppressive targets.The function of COL1A1 gene was analyzed by GO and KEGG.GSVA en-richment method was used to analyze the number of gene grids interacting with COL1A1 gene.Results The expression lev-els of COL1A1 gene in WHO stage Ⅲ patients were significantly higher than those in WHO stage Ⅰ and WHO stage Ⅱ pa-tients,and differences were statistically significant(Dataset mRNAseq_325,P<0.0001;Dataset mRNAseq_693,P=0.0018).With the increase of COL1A1 expression,the expressions of glioma specific markers such as Non-codel 1P19q,Wildtype IDH,and un-methylated MGMT were also more intensive.Heatmap survival analysis chart showed that patients with high expression of the COL1A1 gene had a lower overall survival rate than those with low expression.The results of GO analysis and KEGG analysis showed that the COL1A1 gene might exert its biological functions through extracellular regions,endoplasmic reticulum lumens,extracellular spaces,extracellular matrix structural components,collagen binding,and inte-grin binding proteins.The GSVA enrichment analysis results were consistent with the GO and KEGG analysis results,and the expression of COL1A1 gene was positively correlated with the above-mentioned gene functions.Circos plot suggested that the immune checkpoint most closely associated with glioma was the signal regulatory protein(S1RP).STRING database re-sults showed that there were a total of 10 genes interacting with COL1A1 gene.Conclusion COL1A1 gene is closely related to the stage of glioma,the prognosis of patients and the characteristics of malignant progression of the disease,and can be used as a potential molecular marker of glioma.

brain gliomaCOL1A1 genesurvival prognosis

曾叶旻虓、蔡成龙、陆潞

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右江民族医学院附属医院关节外科老年骨科,广西百色 533000

右江民族医学院研究生学院,广西百色 533000

脑胶质瘤 COL1A1基因 生存预后

广西壮族自治区医疗卫生适宜技术开发与推广应用项目右江民族医学院附属医院高层次人才项目

S2022141R20212606

2024

右江医学
右江民族医学院附属医院

右江医学

影响因子:0.779
ISSN:1003-1383
年,卷(期):2024.52(4)
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