Analysis of key genes and pathways associated with the pathogenesis of intervertebral disc degeneration

J Orthop Surg Res. 2020 Sep 1;15(1):371. doi: 10.1186/s13018-020-01902-4.

Abstract

Background: Intervertebral disc degeneration (IDD) is widely known as the main contributor to low back pain which has a negative socioeconomic impact worldwide. However, the underlying mechanism remains unclear. This study aims to analyze the dataset GSE23130 using bioinformatics methods to identify the pivotal genes and pathways associated with IDD.

Material/methods: The gene expression data of GSE23130 was downloaded, and differentially expressed genes (DEGs) were extracted from 8 samples and 15 controls. GO and KEGG pathway enrichment analyses were performed. Also, protein-protein interaction (PPI) network was constructed and visualized, followed by identification of hub genes and key module.

Results: A total of 30 downregulated and 79 upregulated genes were identified. The DEGs were mainly enriched in the regulation of protein catabolic process, extracellular matrix organization, collagen fibril organization, and extracellular structure organization. Meanwhile, we found that most DEGs were primarily enriched in the PI3K-Akt signaling pathway. The top 10 hub genes were FN1, COL1A2, SPARC, COL3A1, CTGF, LUM, TIMP1, THBS2, COL5A2, and TGFB1.

Conclusions: In summary, key candidate genes and pathways were identified by using integrated bioinformatics analysis, which may provide insights into the underlying mechanisms and offer potential target genes for the treatment of IDD.

Keywords: Bioinformatics; Gene; Intervertebral disc degeneration.

MeSH terms

  • Collagen Type I
  • Computational Biology / methods*
  • Connective Tissue Growth Factor
  • Databases, Genetic*
  • Datasets as Topic*
  • Female
  • Fibronectins
  • Gene Expression / genetics
  • Genetic Association Studies*
  • Humans
  • Intervertebral Disc Degeneration / genetics*
  • Lumican
  • Male
  • Osteonectin
  • Phosphatidylinositol 3-Kinases / metabolism
  • Protein Interaction Maps / genetics
  • Proteins / metabolism*
  • Proto-Oncogene Proteins c-akt / metabolism
  • Signal Transduction / genetics*
  • Signal Transduction / physiology
  • Up-Regulation

Substances

  • CCN2 protein, human
  • COL1A2 protein, human
  • Collagen Type I
  • FN1 protein, human
  • Fibronectins
  • LUM protein, human
  • Lumican
  • Osteonectin
  • Proteins
  • SPARC protein, human
  • Connective Tissue Growth Factor
  • Proto-Oncogene Proteins c-akt