Identification of Periodontal Disease Diagnostic Markers Via Data Cross-Validation

Abstract

Introduction and aims

Periodontitis is a globally prevalent disease that is clinically diagnosed when the periodontal tissues are pathologically affected. Therefore, it is vital to identify novel periodontitis-associated biomarkers that will aid in diagnosing or treating potential patients with periodontitis.

Methods

The GSE16134 and GSE10334 datasets were downloaded from the Gene Expression Omnibus database to identify differentially expressed genes between periodontitis and healthy samples. Single-sample gene set enrichment analysis was performed to identify significantly involved signalling pathways. Weighted gene correlation network analysis was used to identify key molecular modules. Hub genes were screened using key genes to construct a diagnosis and prediction model of periodontitis. Microenvironment cell population-counter was used to analyse immune cell infiltration patterns in periodontal diseases.

Results

Single-sample gene set enrichment analysis revealed that periodontitis involves the PI3K/AKT/mTOR signalling pathway and associated module genes (667 genes). Kyoto Encyclopedia of Genes and Genomes enrichment analysis of the module genes revealed that periodontitis involves the type I interferon, rhythmic process, and response to type I interferon signalling pathways. GSEA identified 21 core genes associated with periodontitis and classified them into two clusters, A and B. Genomics of Drug Sensitivity in Cancer analysis revealed that AKT.inhibitor.VIII had high drug sensitivity in the cluster A subtype. Monocytes and myeloid dendritic cell infiltration were enriched in the cluster A subtype, whereas natural killer T cell infiltration was enriched in the cluster B subtype.

Conclusion

The pathway and gene modules identified in this study may help comprehensively diagnose periodontitis and provide a novel method for evaluating new treatments.

Clinical relevance

Our results are beneficial for classifying periodontitis subtypes and treatment using targeted medicine.