Type-2 diabetes biomarker discovery and risk assessment through saliva DNA methylome

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Abstract The rising prevalence of type 2 diabetes (T2D) motivates innovative strategies to deepen disease understanding and enhance diagnostic capabilities. This study measures diabetes-specific epigenetic signals in saliva, establishing saliva DNA methylome as a promising medium for T2D screening and study. By integrating comprehensive whole-genome bisulfite sequencing (WGBS) and high-depth targeted bisulfite sequencing (TBS), we developed a cost-efficient two-step approach to profiling DNA methylation at regions of interest. WGBS analysis confirmed T2D-specific methylation signatures in saliva, revealing their enrichment in immune and metabolic regulation pathways. TBS enabled accurate cell type deconvolution, revealing minimal differences in cellular composition between diabetic and non-diabetic samples, suggesting intrinsic molecular changes drive the observed methylation changes. Epigenome-wide association studies further identified significant CpG sites, notably in the ABCG1 region, with strong potential for T2D status prediction. These findings validate the saliva DNA methylome as a scalable, non-invasive resource for T2D biomarker discovery, advancing opportunities in T2D screening, risk assessment, and personalized medicine.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.