Orthopedic Department of The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.
Institute of Endemic Diseases, School of Public Health of Health Science Center, Xi'an Jiaotong University, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, Xi'an 710061, China
Biosci Rep. 2019 Jun 28;39(6). doi: 10.1042/BSR20190188.
Kashin-beck disease (KBD) is endemic chronic osteoarthrosis and its pathogenesis is still unclear. The present study aimed to explore differential gene expression in articular cartilage between patients with rheumatoid arthritis (RA) and KBD. Articular cartilages were collected from KBD and RA patients, and differentially expressed genes (DEGs) were analyzed by RNA-seq. The signaling pathway and biological process (BP) of the DEGs were identified by enrichment analysis. The protein-protein interaction (PPI) network of DEGs and the key genes of KBD were identified by network analysis with STRING and cytoscape software. We identified 167 immune-related DEGs in articular cartilage samples from KBD patients compared with RA. The up-regulation of MAPK signaling pathway and the down-regulation of signaling pathways such as toll-like receptor, janus kinase-signal transducers and activators of transcription, leukocyte migration, T-cell receptor and chemokine, and antigen processing and presentation were involved in KBD. We identified 137 genes nodes related with immune and mapped the PPI network diagram. BP analysis revealed that immune response, calcium ion homeostasis, blood vessel morphogenesis, inflammatory response, lymphocyte proliferation, and MAPK activation were involved in KBD. In conclusion, gene expression profiling can be used to identify the different mechanism of pathogenesis between KBD and RA.
大骨节病(KBD)是一种地方性慢性骨关节炎,其发病机制尚不清楚。本研究旨在探讨类风湿关节炎(RA)和 KBD 患者关节软骨之间的差异基因表达。从 KBD 和 RA 患者中收集关节软骨,并通过 RNA-seq 分析差异表达基因(DEGs)。通过富集分析鉴定 DEGs 的信号通路和生物过程(BP)。使用 STRING 和 cytoscape 软件的网络分析鉴定 DEG 的蛋白质-蛋白质相互作用(PPI)网络和 KBD 的关键基因。与 RA 患者相比,我们在 KBD 患者的关节软骨样本中鉴定出 167 个与免疫相关的 DEG。MAPK 信号通路的上调和 Toll 样受体、Janus 激酶信号转导和转录激活因子、白细胞迁移、T 细胞受体和趋化因子以及抗原加工和呈递等信号通路的下调参与了 KBD。我们鉴定出 137 个与免疫相关的基因节点,并绘制了 PPI 网络图。BP 分析表明,免疫反应、钙离子稳态、血管形态发生、炎症反应、淋巴细胞增殖和 MAPK 激活参与了 KBD。总之,基因表达谱分析可用于鉴定 KBD 和 RA 之间发病机制的不同机制。