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慢性原发性免疫性血小板减少症发病机制相关基因的分析

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目的 对慢性原发性免疫性血小板减少症(CITP)发病机制的相关研究进行汇总和分析,尝试阐明CITP的发病机制.方法 以"慢性血小板减少"、"chronic immune thrombocytopenia"为关键词,通过知网和PubMed进行文献搜索,提取跟发病机制有关的基因.对基因进行注释,选取可能的致病基因进行GO-BP功能富集和KEGG通路分析,通过构建基因互作网络,根据基因关联程度找出核心基因.结果 搜索到CITP发病机制相关的中文文章33篇,英文文章42篇,共提取相关基因97个,其中CITP可能的致病基因73个.致病基因GO-BP功能富集主要在炎症、免疫反应、B细胞增殖、细胞因子释放、信号转导等生物学过程中,KEGG分析相关通路主要富集在细胞因子与受体相互作用、辅助性T细胞分化、JAK-STAT、NF-kappa B、TCR、IL-17、PD-1检查点等信号通路;核心基因前20个主要为炎症因子(TNF、各种白介素)和免疫负调控因子(CTLA4、PD-L1).结论 CITP的发病机制跟免疫异常激活有关,相关的核心致病基因与炎症因子、免疫负调控因子有关,与发病有关的生物学过程和信号通路主要集中在炎症、免疫反应、免疫细胞增殖分化等.
Analysis of genes related to the pathogenesis of chronic primary immune thrombocy-topenia
Objective We summarized and analyzed the relevant studies on the pathogenesis of CITP,in order to clarify the pathogenesis of CITP.Methods Using"chronic thrombocytopenia"and"chronic immune thrombocytopenia"as keywords,we searched the literature through CNKI and PubMed,genes involved in the pathogenesis were extracted and annotated.The possible pathogenic genes were selected for GO-BP functional enrichment and KEGG pathway analysis.Then we identified the core genes according to the degree of relevance by constructing a gene interaction network.Results A total of 33 Chinese articles and 42 English articles concerning to the pathogenesis of CITP were searched.We extracted 97 related genes,including 73 possible pathogenic genes of CITP.These functional enriched pathogenic genes were mainly involved in biological processes such as inflammation,immune response,B cell proliferation,cytokine releases,and signal transduction.KEGG analysis showed that the relevant pathways were mainly enriched in cytokine receptor interaction,helper T cell differentiation,JAK-STAT,NF-kappa B,TCR,IL-17,PD-1 checkpoint and other signaling pathways.The top 20 core genes were mainly inflammatory factors(TNF,various interleukins)and negative immune regulators(CTLA4,PD-EOB-L1).Conclusion The pathogenesis of CITP is associated with abnormal immune activation.The core pathogenic genes are associated with inflammatory factors and negative immune regulators.The biological processes and signaling pathways related to CITP mainly focused on inflammation,immune response,immune cell proliferation and differentiation.

CITPChronic primary immune thrombocytopeniaPathogenesisCore genesSignaling pathways

郝文革、郑文献

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广州医科大学附属妇女儿童医疗中心血液肿瘤科,广州 510623

慢性原发性免疫性血小板减少症 发病机制 核心基因 信号通路

2024

血栓与止血学
广州医学院第二附属医院

血栓与止血学

影响因子:0.981
ISSN:1009-6213
年,卷(期):2024.30(4)