Copper Metabolism-Related Genes as Biomarkers in Colon Adenoma and Cancer.

IF 2 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

International Journal of General Medicine Pub Date : 2025-06-10 eCollection Date: 2025-01-01 DOI:10.2147/IJGM.S521512

Taikun Zhang, Ying Fu

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引用次数: 0

Abstract

Purpose: To elucidate the role of copper (Cu) metabolism in the progression of colon adenoma (CA) to colorectal cancer (CRC) and to identify potential biomarkers and therapeutic targets through comprehensive bioinformatics analysis.

Patients and methods: Datasets associated with colon adenoma were retrieved from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) between CA samples and normal controls (NC) were intersected with genes related to copper metabolism (CMRGs) and DEGs between CRC and CA. Five machine-learning algorithms were employed to identify biomarkers. The degree of immune infiltration was evaluated using single-sample Gene Set Enrichment Analysis (ssGSEA), and the expression profiles of these biomarkers across various cell types were further characterized using single-cell RNA sequencing (scRNA-seq). The expression levels of the identified genes were validated using quantitative polymerase chain reaction (qPCR) and data from the Human Protein Atlas (HPA) database.

Results: Five biomarkers were identified: ZEB1, ABCA1, SLC24A3, CAV1, and FLNA. Functional enrichment analysis revealed significant pathway alterations in the low-expression groups of CAV1 (eg, phagosome pathway) and FLNA (eg, ribosome pathway). Significant differences in the infiltration abundance of macrophages and mast cells were observed between CA and NC. scRNA-seq analysis demonstrated that these biomarkers were expressed in fibroblasts, lymphocytes, goblet cells, B cells, and macrophages. The consistency of gene expression between patient samples and public datasets was confirmed through qPCR and HPA data.

Conclusion: This study explores the role of copper metabolism in colon adenoma progression using bioinformatics. Five genes (ZEB1,ABCA1, SLC24A3, CAV1, FLNA) were identified as potential biomarkers. These genes correlate with immune infiltration and may serve as diagnostic and therapeutic targets. Further clinical validation is needed.

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铜代谢相关基因作为结肠腺瘤和癌症的生物标志物。

目的：通过综合生物信息学分析，阐明铜（Cu）代谢在结肠腺瘤（CA）向结直肠癌（CRC）发展过程中的作用，并寻找潜在的生物标志物和治疗靶点。患者和方法：从Gene Expression Omnibus （GEO）数据库中检索结肠腺瘤相关数据集。将CA样本与正常对照（NC）之间的差异表达基因（DEGs）与铜代谢相关基因（CMRGs）和CRC与CA之间的差异表达基因（DEGs）相交。采用五种机器学习算法来识别生物标志物。使用单样本基因集富集分析（ssGSEA）评估免疫浸润程度，并使用单细胞RNA测序（scRNA-seq）进一步表征这些生物标志物在不同细胞类型中的表达谱。利用定量聚合酶链反应（qPCR）和人类蛋白图谱（HPA）数据库的数据验证了鉴定基因的表达水平。结果：鉴定出5种生物标志物：ZEB1、ABCA1、SLC24A3、CAV1和FLNA。功能富集分析显示，低表达组CAV1（如吞噬体途径）和FLNA（如核糖体途径）通路发生显著改变。巨噬细胞和肥大细胞的浸润丰度在CA和NC之间有显著差异。scRNA-seq分析表明，这些生物标志物在成纤维细胞、淋巴细胞、杯状细胞、B细胞和巨噬细胞中表达。通过qPCR和HPA数据证实患者样本和公共数据集之间基因表达的一致性。结论：本研究利用生物信息学方法探讨了铜代谢在结肠腺瘤进展中的作用。5个基因（ZEB1、ABCA1、SLC24A3、CAV1、FLNA）被鉴定为潜在的生物标志物。这些基因与免疫浸润相关，可作为诊断和治疗靶点。需要进一步的临床验证。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of General Medicine Medicine-General Medicine

自引率

0.00%

发文量

1113

审稿时长

16 weeks

期刊介绍： The International Journal of General Medicine is an international, peer-reviewed, open access journal that focuses on general and internal medicine, pathogenesis, epidemiology, diagnosis, monitoring and treatment protocols. The journal is characterized by the rapid reporting of reviews, original research and clinical studies across all disease areas. A key focus of the journal is the elucidation of disease processes and management protocols resulting in improved outcomes for the patient. Patient perspectives such as satisfaction, quality of life, health literacy and communication and their role in developing new healthcare programs and optimizing clinical outcomes are major areas of interest for the journal. As of 1st April 2019, the International Journal of General Medicine will no longer consider meta-analyses for publication.