| 贾志强,连世忠.髓母细胞瘤关键基因和免疫细胞浸润的生物信息学分析[J].安徽医药,2025,29(11):2214-2221. |
| 髓母细胞瘤关键基因和免疫细胞浸润的生物信息学分析 |
| Bioinformatics analysis of key genes and immune cell infiltration in medulloblastoma |
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| DOI：10.3969/j.issn.1009-6469.2025.11.020 |
| 中文关键词: 髓母细胞瘤 疾病特征基因 免疫细胞浸润 生物信息学分析 基因表达 共表达 网络分析 |
| 英文关键词: Medulloblastoma Disease characteristic gene Immune cell infiltration Bioinformatics analysis Gene expres-sion Coexpression Network analysis |
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| 中文摘要: |
| 目的挖掘髓母细胞瘤( MB)的疾病特征性基因，观察 MB特征性基因与免疫细胞浸润之间的相关性，促进 MB的诊断及治疗。方法从 GEO数据库下载表达谱，时间检索范围为 2010年 1月 1日至 2019年 12月 31日，获取 MB(试验组)和健康样本(对照组)之间的差异表达基因( DEGs)进行基因本体论( GO)生物学行为、京都基因和基因组数据库( KEGG)、基因集富集分析( GSEA)等分析了解 DEGs的功能，通过，加权基因共表达网络分析( WGCNA)、 LASSO回归分析和受试者操作特征曲线(ROC曲线)分析得到 MB特征性基因。后使用单样本基因富集分析，观察免疫细胞浸润程度与 MB特征基因之间的相关性。结果共筛选出 8个疾病特征性基因( NDC80、MCM2、KIAA0101、TYMS、GRM3、CAMK2A、GPR22、RASGRF1)这些基因在 MB病人中具有良好的诊断价值并得到内部数据集验证。这些基因中不仅有上调的基因参与 DNA复制等细胞分裂，增殖过程促进 MB的发生发展；而且也有下调的基因影响神经突触生长、生物信号传导过程损害记忆认知的神经系统功能。 MB中还存在 CD4+、CD8+T细胞活化激活并浸润。结论基于 GEO数据库筛选出的 MB特征性基因具有重要的诊断价值。此外，免疫细胞浸润在 MB的进展中起重要作用。可为后续诊断和治疗研究提供方向和思路。 |
| 英文摘要: |
| Objective To identify characteristic genes of medulloblastoma (MB) and investigate the correlation between these charac-teristic genes and immune cell infiltration, thereby facilitating MBdiagnosis and treatment.Methods Expression profiles were down-loaded from the Gene Expression Omnibus (GEO) database, with a search timeframe from January 1, 2010, to December 31, 2019, to obtain differentially expressed genes (DEGs) between MB (experimental group) and healthy samples (control group). Functional analy-sis of DEGs was performed using Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Set Enrichment Analysis (GSEA). Characteristic MB genes were identified through weighted gene co-expression network analysis (WGCNA), LASSO re-gression analysis and receiver operating characteristic curve (ROC curve) analysis, single-sample gene set enrichment analysis was then applied to examine the correlation between immune cell infiltration levels and MB characteristic genes.Results A total of 8 char-acteristic MB genes were identified (NDC80, MCM2, KIAA0101, TYMS, GRM3, CAMK2A, GPR22, RASGRF1). These genes demon-strated significant diagnostic value for MB patients, which was validated using an internal dataset. Among these genes, upregulated genes promoted MB development by participating in cell division and proliferation processes such as DNA replication, while downregu-lated genes impaired neurological functions related to memory and cognition by affecting synaptic growth and biological signaling pro-cesses. Additionally, activated CD4+ and CD8+ T cells were found to infiltrate MB tissues.Conclusions The characteristic MB genes screened from the GEO database possess significant diagnostic value. Moreover, immune cell infiltration plays an important role in MB progression. These findings may provide directions and insights for subsequent diagnostic and therapeutic research. |
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