儿童噬血细胞性淋巴组织细胞增生症发病机制的生物信息学研究  

Mechanisms of childhood hemophagocytic lymphohistiocytosis: A bioinformatic analysis

作　　者：欧丹艳[1] 袁媛[1] 罗建明[1] 

机构地区：[1]广西医科大学第一附属医院儿科,南宁医学硕士530021

出　　处：《医学研究生学报》2014年第4期382-386,共5页Journal of Medical Postgraduates

摘　　要：目的噬血细胞性淋巴组织细胞增生症(hemophagocytic lymphohistiocytosis,HLH)是一种致命的过度炎症性疾病,好发于儿童,死亡率高达40%。为进一步了解儿童HLH的发病机制,研究利用生物信息学方法筛选儿童HLH相关基因,并进行通路富集分析。方法从GEO数据库中获得儿童HLH外周血单个核细胞基因表达谱数据集GSE26050,利用GEO2R在线分析工具筛选差异表达基因,随后使用DAVID数据库的KEGG通路富集方法对其进行分析。结果筛选出表达差异2倍及以上的基因184个,其中126个为上调基因、58个为下调基因;富集出3条通路:细胞因子-细胞因子受体相互作用、造血细胞谱及NOD样受体通路。结论通过生物信息学方法可筛选出儿童HLH相关基因及与之发生发展密切相关的生物通路,为进一步揭示儿童HLH发病机制提供实验参考。Objective Hemophagocytic lymphohistiocytosis （HLH） is a life-threatening condition characterized by excessive inflammation, with a high incidence in children and a death rate of 40%.This study was to analyze the gene expression profile in child-hood HLH and explore the important pathways of childhood HLH using bioinformatic methods . Methods The childhood HLH gene ex-pression profile data GSE26050 were obtained from the Gene Expression Omnibus （GEO） database of the National Center for Biotechnolo-gy Information.Differentially expressed genes were identified with the GEO 2R online analysis tools released recently .The key pathways of the differentially expressed genes were investigated using the Kyoto Encyclopedia of Genes and Genomes （ KEGG） pathway enrichment a-nalysis. Results A total of 184 differentially expressed genes were identified , 126 upregulated and the other 58 downregulated .They were enriched in 3 pathways, including cytokine-cytokine receptor interaction , hematopoietic cell lineage and NOD-like receptor signaling pathways. Conclusion Bioinformatic tools allow the identification of the key genes and pathways associated with the development and progression of childhood HLH and point out the potential directions for researches on the mechanisms of childhood HLH .

关 键 词：噬血细胞性淋巴组织细胞增生症 儿童 差异表达基因 通路富集分析 

分 类 号：R557.4[医药卫生—血液循环系统疾病]