Advancing the Genomics Knowledge Base for Oral Diseases

Oral diseases, mainly dental caries and periodontitis, affect approximately 3.5 billion people, and confer a major global burden of disease. To make headway in better diagnosing, predicting, and managing dental caries and periodontitis, efforts are needed to comprehensively characterize their genomic basis. Prior genetics research has shown that both dental caries and periodontitis are heritable and has identified several associations with specific genetic loci. Despite these efforts, there remain important gaps which need to be addressed, such as the independent replication of previous genetic associations and the identification of novel genetic associations and interactions that constitute the missing heritably. Likewise, efforts are needed to leverage these genomic discoveries for clinical utility, for example, through the development of polygenic risk scores and characterization of gene-by-environment interactions with potentially modifiable interacting factors. Toward these ends, we propose to form a research consortium of more than 800,000 research participants across at least 27 studies. We will perform the largest genome-wide association scans of dental caries and periodontitis, develop polygenic risk scores, and identify gene-by-environment interaction effects. This project will lead to better understanding of the genetic architecture of dental caries and periodontitis and their potentially shared genetics with other human traits, produce new tools for DNA-based prediction, and identify potentially actionable modifiable factors for precision dentistry. These new tools and knowledge will ultimately lead to the development of preventive strategies with clinical utility for reducing disease burden and lessening oral health disparities. Project Number: 1R01DE034410-01A1 | Fiscal Year: 2025 | NIH Institute/Center: National Institute of Dental and Craniofacial Research (NIDCR) | Principal Investigator: John Shaffer (+1 co-PI) | Institution: UNIVERSITY OF PITTSBURGH AT PITTSBURGH, PITTSBURGH, PA | Award Amount: $673,091 | Activity Code: R01 | Study Section: Oral, Dental and Craniofacial Sciences Study Section[ODCS] View on NIH RePORTER: https://reporter.nih.gov/project-details/11240978