Potential genes and pathways associated with heterotopic ossification derived from analyses of gene expression profiles

Journal of Orthopaedic Surgery and Research

Xin Li¹  Rui Guan¹  Yiwei Wang¹  Delong Liu²  Zhanyu Yang²  Bin Sheng² 

[1] Department of Orthopaedics and Traumatology, Hunan Provincial People’s Hospital, the First Affiliated Hospital of Hunan Normal University, No. 61 Jiefang West Road, 410000, Changsha, Hunan, People’s Republic of China;Department of Orthopaedics and Traumatology, Hunan Provincial People’s Hospital, the First Affiliated Hospital of Hunan Normal University, No. 61 Jiefang West Road, 410000, Changsha, Hunan, People’s Republic of China;Hunan Emergency Center, No. 90 Pingchuan Road, 410000, Changsha, Hunan, People’s Republic of China;

关键词: Heterotopic ossification;    Bioinformatic analysis;    Differentially expressed genes;    Protein–protein interaction;    Functional enrichment analysis;   

DOI  :  10.1186/s13018-021-02658-1

来源: Springer

【 摘 要 】

BackgroundHeterotopic ossification (HO) represents pathological lesions that refer to the development of heterotopic bone in extraskeletal tissues around joints. This study investigates the genetic characteristics of bone marrow mesenchymal stem cells (BMSCs) from HO tissues and explores the potential pathways involved in this ailment.MethodsGene expression profiles (GSE94683) were obtained from the Gene Expression Omnibus (GEO), including 9 normal specimens and 7 HO specimens, and differentially expressed genes (DEGs) were identified. Then, protein–protein interaction (PPI) networks and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed for further analysis.ResultsIn total, 275 DEGs were differentially expressed, of which 153 were upregulated and 122 were downregulated. In the biological process (BP) category, the majority of DEGs, including EFNB3, UNC5C, TMEFF2, PTH2, KIT, FGF13, and WISP3, were intensively enriched in aspects of cell signal transmission, including axon guidance, negative regulation of cell migration, peptidyl-tyrosine phosphorylation, and cell-cell signaling. Moreover, KEGG analysis indicated that the majority of DEGs, including EFNB3, UNC5C, FGF13, MAPK10, DDIT3, KIT, COL4A4, and DKK2, were primarily involved in the mitogen-activated protein kinase (MAPK) signaling pathway, Ras signaling pathway, phosphatidylinositol-3-kinase/protein kinase B (PI3K/Akt) signaling pathway, and Wnt signaling pathway. Ten hub genes were identified, including CX3CL1, CXCL1, ADAMTS3, ADAMTS16, ADAMTSL2, ADAMTSL3, ADAMTSL5, PENK, GPR18, and CALB2.ConclusionsThis study presented novel insight into the pathogenesis of HO. Ten hub genes and most of the DEGs intensively involved in enrichment analyses may be new candidate targets for the prevention and treatment of HO in the future.

【 授权许可】

CC BY