基于生物信息学分析JPT2在乳腺癌中的表达及预后价值

Expression and Prognostic Value of JPT2 in Breast Cancer: A Bioinformatics-Based Analysis

摘要: 目的：探讨JPT2基因在乳腺癌中的表达特征、临床意义及其潜在的分子机制。方法：利用TCGA数据库分析JPT2在泛癌中的表达差异，并通过GEO数据库(GSE22820, GSE42568)验证其在乳腺癌组织与正常组织中的表达。采用单基因差异分析、GO/KEGG富集分析、GSEA分析探究其生物学功能。通过免疫浸润分析、蛋白互作网络、临床病理特征关联分析及预后模型评估其临床价值。结果：JPT2在多种肿瘤组织中表达上调，尤其在乳腺癌中显著高表达。差异分析鉴定出大量差异表达基因，富集分析显示其参与细胞周期调控、内分泌治疗抵抗及基底样型乳腺癌相关信号通路。免疫浸润分析提示其与多种免疫细胞浸润水平相关。临床相关性分析显示JPT2表达与ER、PR、HER2状态、PAM50分型、组织学类型及种族显著相关(P < 0.001)。Cox回归分析及列线图模型显示其具有独立预后价值。结论：生物信息学分析显示，JPT2在乳腺癌中显著高表达，其表达水平与患者临床病理特征及不良预后密切相关。功能分析进一步提示该基因可能参与免疫调节及内分泌治疗相关通路。

Abstract: Objective: To investigate the expression characteristics, clinical significance, and potential molecular mechanisms of the JPT2 gene in breast cancer. Methods: The expression differences of JPT2 across various cancers were analyzed using the TCGA (The Cancer Genome Atlas) database, and its expression in breast cancer tissues versus normal tissues was validated through the GEO database (GSE22820, GSE42568). Single-gene differential analysis, GO/KEGG enrichment analysis, and GSEA (Gene Set Enrichment Analysis) were employed to explore its biological functions. Clinical value was assessed via immune infiltration analysis, protein-protein interaction networks, correlation analysis with clinical pathological characteristics, and prognostic modeling. Results: JPT2 expression was upregulated in multiple tumor tissues, particularly showing significant overexpression in breast cancer. Differential analysis identified a large number of differentially expressed genes, and enrichment analysis revealed its involvement in cell cycle regulation, endocrine therapy resistance, and signaling pathways associated with basal-like breast cancer. Immune infiltration analysis suggested its correlation with the infiltration levels of various immune cells. Clinical correlation analysis demonstrated that JPT2 expression was significantly associated with ER (Estrogen Receptor), PR (Progesterone Receptor), HER2 (Human Epidermal Growth Factor Receptor 2) status, PAM50 subtype, histological type, and race (P < 0.001). Cox regression analysis and nomogram models indicated its independent prognostic value. Conclusion: Bioinformatics analysis revealed that JPT2 is significantly overexpressed in breast cancer, and its expression level is closely associated with clinicopathological characteristics and poor prognosis. Functional analysis further suggested that this gene may be involved in immune regulation and endocrine therapy-related pathways.