PDF(Pubmed)
Abstract：
PTBP1 is an oncogene that regulates the splicing of precursor mRNA. However, the relationship between PTBP1 expression and gene methylation, cancer prognosis, and tumor microenvironment remains unclear. The expression profiles of PTBP1 across various cancers were derived from the TCGA, as well as the GTEx and CGGA databases. The CGGA mRNA_325, CGGA mRNA_301, and CGGA mRNA_693 datasets were utilized as validation cohorts. Immune cell infiltration scores were approximated using the TIMER 2.0 tool. Functional enrichment analysis for groups with high and low PTBP1 expression was conducted using Gene Set Enrichment Analysis (GSEA). Methylation data were predominantly sourced from the SMART and Mexpress databases. Linked-omics analysis was employed to perform functional enrichment analysis of genes related to PTBP1 methylation, as well as to conduct protein functional enrichment analysis. Single-cell transcriptome analysis and spatial transcriptome analysis were carried out using Seurat version 4.10. Compared to normal tissues, PTBP1 is significantly overexpressed and hypomethylated in various cancers. It is implicated in prognosis, immune cell infiltration, immune checkpoint expression, genomic variation, tumor neoantigen load, and tumor mutational burden across a spectrum of cancers, with particularly notable effects in low-grade gliomas. In the context of gliomas, PTBP1 expression correlates with WHO grade and IDH1 mutation status. PTBP1 expression and methylation play an important role in a variety of cancers. PTBP1 can be used as a marker of inflammation, progression and prognosis in gliomas.
摘要：
PTBP1是调节前体mRNA剪接的癌基因。然而,PTBP1表达与基因甲基化的关系,癌症预后，肿瘤微环境尚不清楚。PTBP1在各种癌症中的表达谱来自TCGA，以及GTEx和CGGA数据库。CGGAmRNA_325、CGGAmRNA_301和CGGAmRNA_693数据集用作验证群组。使用TIMER2.0工具对免疫细胞浸润评分进行近似。使用基因集富集分析(GSEA)对具有高和低PTBP1表达的组进行功能富集分析。甲基化数据主要来源于SMART和Mexpress数据库。采用连锁组学分析对PTBP1甲基化相关基因进行功能富集分析,以及进行蛋白质功能富集分析。使用Seurat版本4.10进行单细胞转录组分析和空间转录组分析。与正常组织相比，PTBP1在各种癌症中显著过表达和低甲基化。它与预后有关，免疫细胞浸润，免疫检查点表达，基因组变异，肿瘤新抗原负荷，以及一系列癌症中的肿瘤突变负担，在低级别神经胶质瘤中效果尤其显著。在神经胶质瘤的背景下，PTBP1表达与WHO等级和IDH1突变状态相关。PTBP1的表达和甲基化在多种癌症中起着重要作用。PTBP1可作为炎症的标志物，胶质瘤的进展和预后。
