中国骨质疏松杂志

原发性骨质疏松症相关核心基因的生物信息学分析

Bioinformatics analysis of differentially expressed genes in primary osteoporosis

DOI：10.3969/j.issn.1006.7108.2022.03.016

英文关键词:osteoporosis bioinformatics protein-protein interaction network Hub genes

基金项目:国家自然科学基金(81501913)；南通市卫生健康委员会科研计划面上项目（MA2020023）

作者	单位
杨洋1 薛建华1 虞俊波1 顾琪琪1 张亚峰2 刘佳佳1*	1. 南通大学附属医院创伤中心，江苏南通 226001 2. 南通大学附属医院骨科，江苏南通 226001

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中文摘要:

目的分析与原发性骨质疏松症（osteoporosis，OP）发病相关的差异表达基因，筛选OP治疗潜在药物靶点。方法从公共基因表达数据库(gene expression omnibus，GEO) 下载OP相关芯片数据，利用R软件对数据进行标准化处理后，筛选差异基因，对差异基因进行 GO功能和KEGG 通路富集分析、蛋白相互作用网络( protein-protein interaction，PPI )分析和核心基因的筛选。结果共筛选出差异基因569个，其中下调基因562个，上调基因7个。同时差异基因GO分析，主要富集为前体mRNA内含子结合、核体、组蛋白修饰、mRNA 3’端加工和调控结合等，而KEGG分析主要涉及的是泛素介导蛋白水解信号通路（hsa04120）。PPI网络分析共有517个节点和363条连线。Cytoscape软件根据PPI分析数据筛选出了TCEB1、CUL2、KBTBD6、KBTBD7、ASB8、KLHL42、ASB5、FBXO11、ANAPC10、CDC23这10 个核心基因，这些核心基因在OP患者股骨头组织的间充质干细胞中全部表达下调。结论筛选出的差异基因和相关信号通路有助于理解OP发病的分子机制，同时为临床药物治疗OP的研究提供新思路。

英文摘要:

Objective To investigate the differentially expressed genes (DEGs) related to the occurrence and development of osteoporosis (OP) and to screen the potential drug targets. Methods The microarray data concerns osteoporosis were obtained from GEO database and DEGs were identified with R statistical software. GO and KEGG enrichment analysis, protein-protein interaction (PPI) network analysis, and selection of Hub genes were conducted. Results A total of 569 DEGs were screened out. Among them, 7 genes were up-regulated and 562 genes were down-regulated. At the same time, differential gene GO analysis was mainly enriched in processes such as pre-mRNA intronic binding, nuclear body, histone modification, and mRNA 3’-end processing. KEGG analysis was mainly involved the ubiquitin mediated proteolysis signal pathway (hsa04120). PPI network analysis showed 517 nodes and 363 edges. Ten Hub genes, including TCEB1, CUL2, KBTBD6, KBTBD7, ASB8, KLHL42, ASB5, FBXO11, ANAPC10, and CDC23, were acquired using Cytoscape software. These genes were all down-regulated in mesenchymal cells of the femoral head of OP patients. Conclusion The top 10 Hub genes might help us to understand the pathophysiology of OP, and provide therapeutic targets for the development of drugs. Meanwhile，it might provide some new ideas for funding creative scientific hypotheses of OP.

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