Identification of Key Genes Potentially Related to Intervertebral Disk Degeneration by Microarray Analysis

Genet Test Mol Biomarkers. 2019 Sep;23(9):610-617. doi: 10.1089/gtmb.2019.0043. Epub 2019 Aug 1.

Abstract

Aims: This study was designed to investigate differentially expressed genes (DEGs) in the annulus fibrosus (AF), nucleus pulposus (NP), and whole blood (WB) of intervertebral disk degeneration (IDD) patients. Materials and Methods: We retrieved microarray data set GSE70362, which contains the gene expression profiles of 24 AF and 24 NP samples from the Gene Expression Omnibus and identified DEGs in degenerative AF (AF-DEGs) and NP (NP-DEGs) samples compared with nondegenerative samples. We also examined gene expression profiles in WB from patients with IDD and healthy volunteers to identify DEGs in WB (WB-DEGs). We performed functional analyses on the DEGs common to AF-DEGs, NP-DEGs, and WB-DEGs. Expression of the common DEGs was partially validated by quantitative real-time-polymerase chain reaction (QRT-PCR). Results: In total, 846 AF-DEGs, 902 NP-DEGs, and 862 WB-DEGs were identified, and 22 DEGs were common among the three groups. Functional analyses showed that the common DEGs were enriched in 33 biological processes, 16 cellular components, 4 molecular functions, and 9 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways; 13 of the common DEGs were included in the protein-protein interaction (PPI) network and superoxide dismutase 2 (SOD2) was identified as a hub gene in the PPI network. The QRT-PCR results for the expression of the genes protein disulfide isomerase family A member 4, FKBP prolyl isomerase 11, ectonucleotide pyrophosphatase/phosphodiesterase 4, SOD2, and actin binding LIM protein 1, were consistent with the gene chip hybridization results. Conclusions: This study identified key genes for future investigations of the underlying molecular mechanisms of IDD. These genes may provide future targets for the clinical treatment and diagnosis of IDD.

Keywords: annulus fibrosus; common differentially expressed genes; intervertebral disk degeneration; nucleus pulposus; whole blood.

MeSH terms

  • Adult
  • Annulus Fibrosus / metabolism
  • Computational Biology
  • Female
  • Gene Expression Profiling
  • Humans
  • Intervertebral Disc Degeneration / genetics*
  • Intervertebral Disc Degeneration / metabolism
  • LIM Domain Proteins / blood
  • LIM Domain Proteins / genetics
  • LIM Domain Proteins / metabolism
  • Male
  • Microarray Analysis
  • Microfilament Proteins / blood
  • Microfilament Proteins / genetics
  • Microfilament Proteins / metabolism
  • Middle Aged
  • Nucleus Pulposus / metabolism
  • Phosphoric Diester Hydrolases / blood
  • Protein Disulfide-Isomerases / blood
  • Protein Disulfide-Isomerases / genetics
  • Protein Disulfide-Isomerases / metabolism
  • Protein Interaction Maps
  • Superoxide Dismutase / blood
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Transcriptome*

Substances

  • ABLIM1 protein, human
  • LIM Domain Proteins
  • Microfilament Proteins
  • Superoxide Dismutase
  • superoxide dismutase 2
  • ENPP4 protein, human
  • Phosphoric Diester Hydrolases
  • PDIA4 protein, human
  • Protein Disulfide-Isomerases