Dysregulated COL3A1 and RPL8, RPS16, and RPS23 in Disc Degeneration Revealed by Bioinformatics Methods

Spine (Phila Pa 1976). 2015 Jul 1;40(13):E745-51. doi: 10.1097/BRS.0000000000000939.


Study design: Bioinformatics analysis of published microarray data.

Objective: This study aimed to reveal the possible genes and pathways related to the pathogenesis of disc degeneration (DD) by analyzing the microarray data.

Summary of background data: DD is one of the main causes of low back pain, which has become an enormous economic burden for society.

Methods: Gene expression data of annulus cells and nucleus pulposus cells from patients with DD and controls subjects were downloaded from Gene Expression Omnibus. T test and enrichment analysis were used to identify differentially expressed genes (DEGs) and DEGs-associated functions and pathways in DD, respectively. Protein-protein interaction network and module were constructed to analyze the key nodes associated with this disease.

Results: A total of 326 DEGs and 35 DEGs were obtained from the annulus cells and nucleus pulposus cells, respectively. The DEGs of DD in annulus cells were mainly involved in translation, cell adhesion, cell death regulation, and skeletal system development whereas the DEGs in nucleus pulposus cells were mainly related to the biological processes of vascular system development, skeletal system development, and enzyme-linked receptor protein signaling pathway. COL3A1 was the common DEG in both annulus cells and nucleus pulposus cells. The genes encode ribosomal proteins (RPL8, RPS16, and RPS23) in module were enriched in biological processes of translation, translation elongation, and RNA processing.

Conclusion: The results revealed the involvement of COL3A1 in skeletal system process and RPL8, RPS16, and RPS23 in the protein synthesis processes in the progression of DD, suggesting their potential use in the diagnosis and therapy of DD.

Level of evidence: N/A.

MeSH terms

  • Case-Control Studies
  • Collagen Type III / genetics*
  • Computational Biology*
  • Databases, Genetic
  • Disease Progression
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Gene Regulatory Networks
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Intervertebral Disc / chemistry*
  • Intervertebral Disc / pathology
  • Intervertebral Disc Degeneration / diagnosis
  • Intervertebral Disc Degeneration / genetics*
  • Phenotype
  • Protein Interaction Mapping
  • Protein Interaction Maps
  • Ribosomal Proteins / genetics*


  • COL3A1 protein, human
  • Collagen Type III
  • Genetic Markers
  • RPL8 protein, human
  • RPS23 protein, human
  • Ribosomal Proteins
  • Rps16 protein, human