Exploring the interconnected pathobiology between Crohn's disease, ulcerative colitis and colorectal cancer through gene expression, pathway analysis and immune profiling

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene Pub Date : 2025-04-14 DOI:10.1016/j.humgen.2025.201404

Sonia Chadha

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Abstract

Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), share immune dysregulation mechanisms with colorectal cancer (CRC). This study analyzed gene expression datasets (GSE75214: 74 UC, 8 CD, 11 controls; GSE110224: 17 CRC, matched controls) to identify differentially expressed genes (DEGs), enriched pathways, and hub genes. Gene Ontology and pathway analyses highlighted inflammatory response, chemokine activity, and cytokine signalling. Immune infiltration analysis (CIBERSORTx) revealed distinct immune cell patterns, including increased mast cells, M1 macrophages, and neutrophils in CD, UC, and CRC, with activated dendritic cells present only in CD and UC. Protein-protein interaction (PPI) analysis identified hub genes common to CD, UC, and CRC (e.g., IL1B, CXCL8, CD44), which correlated with immune infiltration. GEPIA validation confirmed their relevance in CRC. These findings suggest a regulatory cross talk between gene expression and immune modulation, shedding light on the molecular mechanisms underlying IBD-associated CRC. The study provides potential biomarkers and therapeutic targets for early diagnosis and intervention.

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通过基因表达、通路分析和免疫谱分析探索克罗恩病、溃疡性结肠炎和结直肠癌之间的相互关联的病理生物学

炎症性肠病（IBD），包括克罗恩病（CD）和溃疡性结肠炎（UC），与结直肠癌（CRC）具有相同的免疫失调机制。本研究分析了基因表达数据集(GSE75214: 74 UC, 8 CD， 11对照；GSE110224: 17 CRC，匹配对照)鉴定差异表达基因（DEGs），富集途径和枢纽基因。基因本体论和途径分析强调炎症反应，趋化因子活性和细胞因子信号。免疫浸润分析（CIBERSORTx）显示了不同的免疫细胞模式，包括CD、UC和CRC中肥大细胞、M1巨噬细胞和中性粒细胞增加，激活的树突状细胞仅存在于CD和UC中。蛋白-蛋白相互作用（PPI）分析发现了CD、UC和CRC共有的中心基因（如IL1B、CXCL8、CD44），这些基因与免疫浸润相关。GEPIA验证证实了它们与CRC的相关性。这些发现提示了基因表达和免疫调节之间的调控串扰，揭示了ibd相关结直肠癌的分子机制。该研究为早期诊断和干预提供了潜在的生物标志物和治疗靶点。

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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