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The following is a summary of “Identification and Experimental Verification of Potential Immune Cell-Associated Gene Biomarkers in Human Intervertebral Disc Degeneration,” published in the February 2025 issue of Journal of Pain Research by Shi et al.
Researchers conducted a retrospective study using bioinformatics analysis to identify biomarkers linked to immune cells in intervertebral disc degeneration (IDD).
They obtained gene expression profiles for IDD by downloading the Gene Expression Omnibus Series (GSE150408) and (GSE124272) from the Gene Expression Omnibus (GEO) database. Multiple bioinformatics analyses identified hub genes related to IDD and immune cells, and their diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. A long non-coding RNA (lncRNA)-signature gene co-expression network was constructed. Finally, the biomarkers’ diagnostic accuracy was validated through real-time quantitative polymerase chain reaction (RT-qPCR).
The results showed that ASAP1-IT1, IKZF2, KLHL14, lnc-C10orf131-1, and LOC101927805 were identified as signature genes for IDD. The ROC analysis demonstrated that these 5 signature gene models effectively distinguished IDD samples from healthy controls. The genes were significantly linked to immune-inflammatory feedback, cell cycle regulation, and the skeletal system. A lncRNA signature gene network was constructed to explore biomarker regulatory mechanisms and RT-qPCR confirmed that IKZF2 and KLHL14 were downregulated in patients with IDD, while ASAP1-IT1 was significantly upregulated.
Investigators concluded that ASAP1-IT1, IKZF2, and KLHL14 were identified as key signature genes for IDD, suggesting potential therapeutic targets.