Department of Neurosurgery, The First Hospital of China Medical University, Shenyang, Liaoning, China.
Department of Neurosurgery, The Second Hospital of Dalian Medical University, Dalian, Liaoning, China.
Cell Cycle. 2022 Jun;21(12):1294-1315. doi: 10.1080/15384101.2022.2049157. Epub 2022 Mar 10.
Aberrant expression of coding genes of the V-ATPase subunits has been reported in glioma patients that can activate oncogenic pathways and result in worse prognosis. However, the predictive effect of a single gene is not specific or sensitive enough. In this study, by using a series of bioinformatics analyses, we identified five coding genes (ATP6V1C2, ATP6V1G2, TCIRG1, ATP6AP1 and ATP6AP2) of the V-ATPase that were related to glioma patient prognosis. Based on the expression of these genes, glioma patients were sub-classified into different prognosis clusters, of which C1 cluster performed better prognosis; however, C2 cluster showed more malignant phenotypes with oncogenic and immune-related pathway activation. The single-cell RNA-seq data revealed that ATP6AP1, ATP6AP2, ATP6V1G2 and TCIRG1 might be cell-type potential markers. Copy number variation and DNA promoter methylation potentially regulate these five gene expressions. A risk score model consisted of these five genes effectively predicted glioma prognosis and was fully validated by six independent datasets. The risk scores also showed a positive correlation with immune checkpoint expression. Importantly, glioma patients with high-risk scores presented resistance to traditional treatment. We also revealed that more inhibitory immune cells infiltration and higher rates of "non-response" to immune checkpoint blockade (ICB) treatment in the high-risk score group. In conclusion, our study identified a five-gene signature from the V-ATPase that could sub-classify gliomas into different phenotypes and their abnormal expression was regulated by distinct mechanisms and accompanied with immune microenvironment alterations potentially act as a biomarker for ICB treatment.
已有研究报道,在胶质瘤患者中存在 V-ATPase 亚基编码基因的异常表达,这些基因可激活致癌途径,导致预后不良。然而,单个基因的预测效果不够特异或敏感。在本研究中,我们通过一系列生物信息学分析,确定了与胶质瘤患者预后相关的 V-ATPase 的五个编码基因(ATP6V1C2、ATP6V1G2、TCIRG1、ATP6AP1 和 ATP6AP2)。基于这些基因的表达,我们将胶质瘤患者分为不同的预后亚群,其中 C1 亚群的预后较好;然而,C2 亚群表现出更恶性的表型,存在致癌和免疫相关途径的激活。单细胞 RNA-seq 数据显示,ATP6AP1、ATP6AP2、ATP6V1G2 和 TCIRG1 可能是细胞类型的潜在标志物。拷贝数变异和 DNA 启动子甲基化可能调节这五个基因的表达。由这五个基因组成的风险评分模型能有效预测胶质瘤的预后,并通过六个独立数据集得到充分验证。风险评分与免疫检查点表达呈正相关。重要的是,高风险评分的胶质瘤患者对传统治疗具有耐药性。我们还发现,高风险评分组中抑制性免疫细胞浸润更多,对免疫检查点阻断(ICB)治疗的“无应答”率更高。总之,我们从 V-ATPase 中鉴定了一个五基因特征,可以将胶质瘤分为不同的表型,其异常表达受不同机制调节,并伴有免疫微环境改变,可能作为 ICB 治疗的生物标志物。