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基于生物信息学分析溃疡性结肠炎DNA甲基化标志物

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目的 基于生物信息学方法分析溃疡性结肠炎(ulcerative colitis,UC)的DNA甲基化生物标志物.方法 采用基因表达综合数据库(Gene Expression Omnibus,GEO)的芯片数据GSE81211、GSE75214、GSE87466分析UC的差异甲基化位点和差异表达基因,得到异常甲基化修饰的差异表达基因,并进行富集分析和蛋白质互作网络(protein-protein interaction,PPI)分析.使用谱芯片GSE36807验证核心基因的表达水平并绘制受试者操作特征曲线验证核心基因诊断效能.结果 共筛选出 42个高甲基化修饰低表达基因,53个低甲基化修饰高表达基因.功能富集分析显示主要与先天免疫反应、T细胞受体信号通路、上调细胞外信号调节激酶(extracellular regulated kinase,ERK)1和ERK2级联反应相关.基因富集的信号通路为细胞黏附分子和代谢途径.结论 7个异常甲基化修饰差异表达基因SELL、SLAMF1、FCGR2A、CD86、CTLA4、CCR7、PTPRC可能是UC的潜在生物标志物及治疗靶点.
Bioinformatics-based analysis of DNA methylation markers in ulcerative colitis
Objective To analyze DNA methylation biomarkers of ulcerative colitis(UC)based on bioinformatics methods.Methods Chip data from Gene Expression Omnibus(GEO),specifically GSE81211,GSE75214,and GSE87466,were used to analyze differentially methylated sites and differentially expressed genes in UC.This led to the identification of differentially expressed genes with abnormal methylation modifications.These genes were then subjected to enrichment analysis and protein-protein interaction(PPI)network analysis.The expression levels of core genes were validated using the spectral chip GSE36807,and diagnostic efficacy of these core genes was verified by plotting receiver operating characteristic curves.Results A total of 42 genes with high methylation modifications and low expression,and 53 genes with low methylation modifications and high expression were identified.Functional enrichment analysis showed that these genes were mainly associated with innate immune responses,T cell receptor signaling pathways,and upregulation of extracelluar regulated kinase(ERK1)and ERK2 cascade reactions.The enriched signaling pathways of these genes involved cell adhesion molecules and metabolic pathways.Conclusion Seven differentially expressed genes with abnormal methylation modifications SELL,SLAMF1,FCGR2A,CD86,CTLA4,CCR7,and PTPRC may serve as potential biomarkers and therapeutic targets for UC.

Ulcerative colitisBioinformaticsDNA methylationEpigenetics

海双双、刘怡红、赵海波、于瑞淼

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中国医科大学附属第一医院消化内科,辽宁沈阳 110000

赤峰市医院消化内科,内蒙古赤峰 024000

溃疡性结肠炎 生物信息学 DNA甲基化 表观遗传学

2024

中国现代医生
中国医学科学院

中国现代医生

影响因子:1.571
ISSN:1673-9701
年,卷(期):2024.62(35)