Screening key genes differentially expressed in ankylosing spondylitis based on bioinformatics analysis and its clinical correlation study

Objective

This study aimed to identify potential biomarkers for Ankylosing Spondylitis (AS) through integrated bioinformatics analysis and case-control validation, thereby providing a theoretical basis for understanding the underlying pathogenesis of AS.

Methods

We first performed a comprehensive bioinformatics analysis integrated with a literature review to identify key candidate genes. Following this, a case-control validation study was carried out to verify the differential expression of these genes.

Results

Sixty-one differentially expressed genes (DEGs) were initially screened, and four key genes, ID2, PRF1, GZMB, and S100A12, were screened through comprehensive analysis and reference to relevant literature. Data from the qRT-PCR analysis indicated that the expression levels of ID2, PRF1, and GZMB were significantly reduced in patients with AS. The area under the ROC curve (AUC) indicated that among the single genes, ID2 had the best diagnostic performance, and the combined diagnostic performance of the four key genes was superior to that of ID2 alone. ID2 might regulate the apoptotic process of downstream PRF1 and GZMB through natural killer cells and CD8 cytotoxic T lymphocytes, thereby participating in the pathogenesis of AS. Furthermore, this study found that S100A12, PRF1 and GZMB were associated with multiple clinical indicators that reflected the level of inflammation or disease activity.

Conclusions

We identified four key DEGs via bioinformatics analysis and further validated them in case-control studies. The results indicated that these DEGs might serve as potential molecular targets for the diagnosis and treatment of AS.