骨质疏松患者基因多态性与椎间盘退变的相关性研究
The relationship between gene polymorphism in patients with osteoporosis and with intervertebral disc degeneration
  
DOI:10.3969/j.issn.1006.7108.2022.03.019
中文关键词:  骨质疏松症  椎间盘退变  生物信息学  基因芯片  高通量测序
英文关键词:osteoporosis  intervertebral disc degeneration  bioinformatics analysis  gene chip  high throughput sequencing
基金项目:国家中医药管理局第四批全国中医(临床、基础)优秀人才研修项目[国中医药人教发(2017)24号];广西自然科学基金青年基金(2020GXNSFBA159053);广西高校青年教师基础能力提升项目(2019KY0352);江西省中医药管理局科技计划项目(202130567)
作者单位
章晓云1 李华南1* 陈锋2 柴源2 甘斌1 李松1 1.江西中医药大学江西 南昌 330004 2.广西中医药大学广西 南宁 530000 
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中文摘要:
      目的 探讨分析骨质疏松患者基因多态性与椎间盘退变的相关性研究。方法 通过GEO数据库获取骨质疏松症(osteoporosis,OP)与椎间盘退变(intervertebral disc degenerative,IDD)的基因表达谱数据,分析两者的差异基因并取交集,再利用Cytoscape软件构建PPI网络,根据度值筛选出关键基因,并分析其与OP和IDD之间的关系。最后利用DAVID数据库分析关键基因在OP和IDD发生发展过程中的主要生物功能和信号通路。结果 在OP与IDD的发生发展中共有205个交集基因,其中UBC、YWHAZ、TP53、CUL3、NTRK1、BRCA1、MCM2、ESR1为关键基因。GO功能分析与KEGG富集分析结果显示,与OP和IDD的发生发展过程密切相关的生物学过程主要涉及蛋白质-DNA复合物组合、蛋白质-DNA复合物亚基组织、蛋白质去泛素化、蛋白质小分子修饰、染色体组织的调控等,主要涉及PI3K/Akt信号通路、泛素介导的蛋白质水解、线粒体自噬、影响细胞周期及凋亡相关通路、神经营养素信号通路、甲状腺激素信号通路等。结论 OP与IDD之间存在着高度重合的差异基因表达,所涉及的基因功能和信号通路有助于了解两种疾病共同的发病机制,并为药物研发及治疗方式提供一定的参考。
英文摘要:
      Objective To explore the relationship between gene polymorphism in patients with osteoporosis (OP) and with intervertebral disc degeneration (IDD). Methods The gene expression profile of OP and IDD was obtained from GEO database. The difference genes were analyzed and the intersection was collected. PPI network was then constructed by using Cytoscape software. The key genes were screened out according to the degree value, and the relationship between OP and IDD was analyzed. Finally, the main biological function and signal pathway of the key genes in the process of OP and IDD development were analyzed by using David database. Results The results showed that there were 205 cross genes in the occurrence and development of OP and IDD. UBC, YWHAZ, TP53, CUL3, NTRK1, BRCA1, MCM2, and ESR1 were the key genes. The results of GO function analysis and KEGG enrichment analysis showed that the biological process closely related to the occurrence and development of OP and IDD mainly involved protein-DNA complex assembly, protein-DNA complex subunit organization, protein deubiquitination, protein modification by small protein removal, and regulation of chromosome organization. It also involved PI3K/Akt signaling pathway, ubiquitin mediated protein hydrolysis, mitochondrial autophagy, apoptosis pathways, neurotrophin signaling pathway, and thyroid hormone signaling pathway. Conclusion There is highly coincident gene expression between OP and IDD. The involved gene function and signal pathway are helpful to understand the common pathogenesis of the two diseases, and to provide certain reference for the common drug research and treatment of the two diseases.
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