Integrative multi-omics and bioinformatic analysis of MMP20 in amelogenesis imperfecta

To systematically review and integrate current evidence on MMP20, a key gene associated with autosomal recessive hypomaturation amelogenesis imperfecta, using a multi-omics framework complemented by integrated bioinformatic analyses.

A systematic literature search was conducted in the PubMed and Web of Science databases from database inception to March 2026 using keywords related to MMP20 and multiple omics domains. Eligible studies were systematically screened, quality assessed, and integrated with data from 16 bioinformatic databases and tools.

Of 186 screened publications, 67 met the inclusion criteria. Thirteen omics layers were evaluated, with available data identified for nine layers. Integrated analysis identified 37 reported sequence variants, 173 predicted microRNA-binding sites, 11 post-translational modification sites, and one sequence variant located within a post-translational modification site. Protein-protein interaction analysis revealed a highly interconnected network comprising MMP20 and 17 other amelogenesis imperfecta-associated proteins.

This systematic review provides a multi-omics overview of MMP20 by integrating published evidence with bioinformatic analyses. The identified variants, regulatory elements, post-translational modifications, and interaction networks expand current understanding of the molecular landscape surrounding MMP20 and its role in enamel development. The proposed workflow may facilitate variant interpretation and serve as a framework for gene-disease investigations.