Analysis of key genes and pathways associated with the pathogenesis of intervertebral disc degeneration
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(2020) 15:371
RESEARCH ARTICLE
Open Access
Analysis of key genes and pathways associated with the pathogenesis of intervertebral disc degeneration Shiyu Hu1†, Yucheng Fu2†, Bin Yan1, Zhe Shen3* and Tao Lan3*
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: Intervertebral disc degeneration, Gene, Bioinformatics
Introduction Low back pain (LBP) is increasingly recognized as a global public health problem associated with decreased quality of life and increased healthcare expenditure [1–3]. It is estimated that 70–80% of the adult population suffer from at least one episode of LBP during their lifetime and 10% become chronically disabled [4]. With the changing of work * Correspondence: [email protected]; [email protected] † Shiyu Hu and Yucheng Fu contributed equally to this work and should be considered co-first authors. 3 Department of Spine Surgery, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China Full list of author information is available at the end of the article
and lifestyle, the incidence and prevalence of low back pain increase dramatically in the past few decades. Intervertebral disc degeneration (IDD) is one of the most common sources of low back pain [5]. Being the largest avascular structure of the human body, the intervertebral disc is a complex structure consisting of the annulus fibrosus, nucleus pulposus, and cartilage endplate. The extracellular matrix (ECM) is the main component of the intervertebral disc which is responsible for maintaining both structure and function of the intervertebral disc. Intervertebral disc degeneration is characterized by the excessive degradation of ECM, leading to r
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