Genetic architecture of dental traits: mapping and pathway enrichment of genome-wide associations

Nairobi Hernández Bridon and Nairobi25hb@gmail.com

SAP Artificial Intelligence in Dentistry, 2026

Abstract: Introduction: Genome-wide association studies have identified many loci for dental traits, but the mapped genes, biological pathways, and population diversity of this literature have not been characterized together. Methods: The NHGRI-EBI GWAS Catalog was queried for dental trait studies, associations were mapped to genes, gene ontology enrichment was performed with g:Profiler, and the ancestry composition of the studied cohorts was tabulated. Results: Sixty-six studies across five trait groups contributed 181,856 associations mapping to 13,563 genes. Periodontitis had the most associations (99,834) and genes (12,183), developmental and structural processes were the top enriched pathways, and 58.6% of studied cohorts were of European ancestry. Conclusions: The genetic architecture of dental traits is dominated by periodontitis and enamel and dentin structure, converges on developmental and structural pathways, and remains heavily European in its ancestry representation.

Date: 2026
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Persistent link: https://EconPapers.repec.org/RePEc:cwf:aidart:aid202664

DOI: 10.62486/aid202664

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