A diagnostic signatures for intervertebral disc degeneration using TNFAIP6 and COL6A2 based on single-cell RNA-seq...

Area of Science:

• Biomedical research
• Molecular biology
• Genomics

Background:

• Intervertebral disc degeneration (IVDD) is a major cause of low back pain and disability.
• Identifying reliable biomarkers for IVDD is crucial for effective management.

Purpose of the Study:

• To identify novel biomarkers and signaling pathways associated with Intervertebral Disc Degeneration (IVDD).
• To evaluate the diagnostic and predictive potential of identified biomarkers.

Main Methods:

• Utilized bulk-RNA and single-cell RNA sequencing (scRNA-Seq) on IVDD patient data.
• Performed gene set enrichment analysis (GSEA) and receiver operating characteristic (ROC) curve analysis.
• Confirmed gene and transcription factor expression using RT-qPCR and immunohistochemistry (IHC).

Main Results:

• Identified TNFAIP6 and COL6A2 as key genes significantly altered in IVDD.
• TNFAIP6 and COL6A2 demonstrated strong diagnostic and predictive value across multiple datasets.
• ZEB2 was identified as a transcriptional factor regulating TNFAIP6 and COL6A2 in IVDD.

Conclusions:

• TNFAIP6 and COL6A2 are promising biomarkers for predicting IVDD disease activity.
• These identified biomarkers can aid in the diagnosis of Intervertebral Disc Degeneration.