家族性腺瘤性息肉病临床特征及生物信息学分析  

Clinical characteristics and bioinformatics analysis of familial adenomatous polyposis

作　　者：丁富贵 吴泽涛 董卫国[1] Ding Fugui;Wu Zetao;Dong Weiguo(Department of Gastroenterology,People's Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院消化内科,430060

出　　处：《中华消化病与影像杂志（电子版）》2024年第6期512-518,共7页Chinese Journal of Digestion and Medical Imageology(Electronic Edition)

基　　金：国家自然科学基金(8217033472)。

摘　　要：目的为深入分析家族性腺瘤性息肉病(FAP)的两个主要亚型,以理解其临床特征的异同,并探讨APC基因突变与疾病发展之间的关系。方法采用回顾性研究设计,纳入2013年1月至2023年12月武汉大学人民医院诊治的65例FAP患者,包括36例经典型FAP(CFAP)患者和29例衰减型FAP(AFAP)患者。通过分析这些患者的临床资料和来自基因表达数据库的数据集,筛选出了差异表达基因(DEGs),对这些基因进行了基因本体(GO)和京都基因与基因组百科全书(KEGG)富集分析,以及基因集富集分析(GSEA)。结果临床资料分析显示,CFAP和AFAP患者在发病年龄、症状表现以及结直肠癌发展的风险上存在显著差异。基因表达分析揭示了两种亚型在基因表达层面的显著差异,特别是在细胞增殖、凋亡和信号通路调控方面。DEGs主要参与的生物学过程包括防御共生体的应答、病毒过程、细胞因子产生的正调控等,对DEGs进行KEGG通路富集分析结果显示DEGs主要参与NOD样受体信号通路。GSEA显示细胞周期、有丝分裂、DNA合成等基本生物学过程在CFAP的发生发展中发挥重要作用。结论本研究运用生物信息学方法和临床资料回顾性分析,揭示了FAP的两个亚型CFAP和AFAP在临床和分子层面上的显著差异。这些差异对于理解不同FAP亚型的疾病发展机制具有重要意义,为FAP的临床诊断和治疗提供了新的见解和潜在靶点,为未来的治疗和管理提供了重要的基础。Objective To thoroughly analyze the two main subtypes of familial adenomatous polyposis(FAP),to understand the similarities and differences in their clinical characteristics,and to explore the relationship between APC gene mutations and disease progression.Methods This retrospective study encompassed 65 FAP patients who were treated and treated at the People's Hospital of Wuhan University from January 2013 to December 2023,including 36 classical FAP(CFAP)and 29 attenuated FAP(AFAP)cases.By analyzing the clinical data of these patients and datasets from gene expression databases,we identified differentially expressed genes(DEGs)and conducted Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis,as well as Gene Set Enrichment Analysis(GSEA).Results Clinical data analysis revealed significant differences between CFAP and AFAP patients in terms of age of onset,symptom manifestation,and risks of colorectal cancer development.Gene expression analysis highlighted significant differences between these two FAP subtypes,especially in terms of cell proliferation,apoptosis,and signal pathway regulation.The DEGs were primarily involved in biological processes such as response to symbiont,viral processes,and positive regulation of cytokine production,with KEGG pathway enrichment analysis indicating their involvement in NOD-like receptor signaling pathways.GSEA suggested that fundamental biological processes like the cell cycle,mitosis,and DNA synthesis played crucial roles in the development of CFAP.Conclusion By integrating bioinformatics methods and clinical data analysis,this study has revealed significant clinical and molecular differences between the CFAP and AFAP subtypes of FAP.These differences are vital for understanding the disease progression mechanisms of different FAP subtypes,providing new insights and potential targets for clinical diagnosis and treatment of FAP,and providing an important foundation for future treatment and management.

关 键 词：家族性腺瘤性息肉病 临床病理特征 差异表达基因 生物信息学 

分 类 号：R735[医药卫生—肿瘤]