Wang Wei, Gong Jianyang
Department of Ophthalmology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
Anhui Public Health Clinical Center, Hefei 230022, China.
Biology (Basel). 2025 Apr 12;14(4):409. doi: 10.3390/biology14040409.
A dysregulated nucleotide metabolism has been implicated in the pathogenesis of diabetic retinopathy (DR). RNA sequencing datasets, GSE102485, GSE60436, and GSE165784, were downloaded from the GEO database. The differentially expressed genes (DEGs) between the DR and controls overlapped with nucleotide metabolism-related genes (NM-RGs), resulting in the differentially expressed NM-RGs (DE-NMRGs). Next, the core genes were identified by the five algorithms of the CytoHubba plugin. Receiver Operating Characteristic (ROC) curves and gene expression analysis were utilized to confirm the biomarkers. Then, the correlations between biomarker expression and the immune-related module were analyzed. The miRNA and transcription factor (TF) predictions, biomarker-targeting drugs, and molecular docking were implemented separately. The interaction between each subcluster of DR was elucidated through single-cell RNA (scRNA) analysis. Moreover, RT-PCR was applied to verify the expression of the biomarkers. In GSE102485, 48 DE-NMRGs were identified via the intersection of 1359 DEGs and 882 NM-RGs. Using the CytoHubba plugin, HMOX1, TLR4, and ACE were selected as core genes. As per the GSVA result, the interferon alpha response, IL6_JAK_STAT3 signaling, and apoptosis were activated in the DR group. The TF prediction identified TLR4 and HMOX1 as potential target genes of USF2. In conclusion, ACE and HMOX1 were possible diagnostic biomarkers related to nucleotide metabolism in DR.
核苷酸代谢失调与糖尿病视网膜病变(DR)的发病机制有关。从基因表达综合数据库(GEO数据库)下载了RNA测序数据集GSE102485、GSE60436和GSE165784。DR组与对照组之间的差异表达基因(DEG)与核苷酸代谢相关基因(NM-RG)重叠,从而产生差异表达的NM-RG(DE-NMRG)。接下来,通过CytoHubba插件的五种算法鉴定核心基因。利用受试者工作特征(ROC)曲线和基因表达分析来确认生物标志物。然后,分析生物标志物表达与免疫相关模块之间的相关性。分别进行了miRNA和转录因子(TF)预测、靶向生物标志物的药物分析以及分子对接。通过单细胞RNA(scRNA)分析阐明了DR各亚群之间的相互作用。此外,应用逆转录聚合酶链反应(RT-PCR)验证生物标志物的表达。在GSE102485中,通过1359个DEG与882个NM-RG的交集鉴定出48个DE-NMRG。使用CytoHubba插件,选择血红素加氧酶1(HMOX1)、Toll样受体4(TLR4)和血管紧张素转换酶(ACE)作为核心基因。根据基因集变异分析(GSVA)结果,DR组中干扰素α反应、白细胞介素6-信号转导及转录激活因子3(IL6_JAK_STAT3)信号通路和细胞凋亡被激活。TF预测确定TLR4和HMOX1是上游刺激因子2(USF2)的潜在靶基因。总之,ACE和HMOX1可能是与DR中核苷酸代谢相关的诊断生物标志物。