综合分析结直肠癌异常甲基化差异表达基因
投稿时间:2025-04-23  修订日期:2025-06-06  点此下载全文
引用本文:李疆芬,房新志.综合分析结直肠癌异常甲基化差异表达基因[J].医学研究杂志,2025,54(10):64-71
DOI: 10.11969/j.issn.1673-548X.2025.10.012
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作者单位
李疆芬 乌鲁木齐,新疆医科大学第四附属医院病理科 830000 
房新志 乌鲁木齐,新疆医科大学第四附属医院病理科 830000 
基金项目:新疆维吾尔自治区自然科学基金资助项目(2022D01C820)
中文摘要:目的 筛选结直肠癌中甲基化调控的异常表达基因,以探讨甲基化在结直肠癌进展中的作用。方法 从基因表达综合(Gene Expression Omnibus,GEO)数据库下载并分析2个基因表达数据集(GSE25070和GSE20916)和3个甲基化数据集(GSE25062、GSE3318和GSE77718)。通过蛋白互作网络分析数据库进行基因的功能和通路注释。GSE103340分析核心基因在结直肠癌不同分子亚型的表达差异。TCGA、cBioPortal数据库及生存曲线绘图仪分别用于验证核心基因、分析核心基因表达水平与结直肠癌临床病理参数、预后的关系。结果 共获得12个上调-低甲基化和73个下调-高甲基化基因,最终得到8个受甲基化调控的核心基因。KIT下调和ITPKB过表达与结直肠癌患者预后不良相关。结论 本研究通过多个生物信息学数据库的综合分析,为结直肠癌甲基化的表观遗传调控提供了新思路,对分子诊断和预后有一定的启示。
中文关键词:结直肠癌 甲基化 分子亚型 临床病理因素 预后
 
Comprehensive Analysis of Differentially Expressed Genes with Abnormal Methylation in Colorectal Cancer.
Abstract:Objective To screen abnormally expressed genes regulated by methylation in colorectal cancer(CRC), and explore the mechanism of methylation in the progression of CRC. Methods Two gene expression datasets (GSE25070 and GSE20916) and 3methylation datasets (GSE25062, GSE48684 and GSE77718) were downloaded and analyzed by the Gene Expression Omnibus (GEO) database. Gene function and pathway annotation were conducted through the protein-protein interaction network analysis database. GSE103340 was used to analyze the expression differences of hub genes in different molecular subtypes of CRC. TCGA, cBioPortal database and survival curve plotter were used to validate the hub genes and to analyze the relationship between the expression levels of hub genes and the clinicopathological parameters and prognosis of CRC. Results A total 12 upregulated-hypomethylated and 73downregulated-hypermethylated genes were obtained. 8hub genes regulated by methylation were verified. KIT downregulation and ITPKB overexpression were associated with poor prognosis in patients with CRC. Conclusion Through the comprehensive analysis of multiple bioinformatics databases, this study provides a new idea for the epigenetic regulation of CRC methylation, and has a certain hint for molecular diagnosis and prognosis.
keywords:Colorectal cancer  Methylation  Molecular isoforms  Clinicopathological factors  Prognostic
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