September 30, 2013

Gene interactions and cavities

Vanderbilt researchers used existing genome-wide association study datasets to identify gene interactions that contribute to tooth decay.


Dental caries – decay of hard tooth surfaces – is a chronic disease that decreases quality of life worldwide. Recent genome-wide association studies (GWAS) have identified several loci and genes that contribute to susceptibility for dental caries.

To explore the role of interactions between genes, Zhongming Zhao, Ph.D., Lily Wang, Ph.D., and colleagues have now performed gene set enrichment analyses on an existing GWAS dataset. They used four representative gene set analysis methods and found 13 significantly and 17 marginally associated gene sets including “sphingoid metabolic process,” “ubiquitin protein ligase activity” and “regulation of cytokine secretion.” These gene sets represent signaling pathways that potentially contribute to the oral immune response related to caries development – and that were not identified in single marker-based analyses.

The findings, reported recently in PLOS ONE, provide insights into the molecular mechanisms and interactions in dental caries and suggest new avenues for understanding the complex causes of tooth decay.

This research was supported by grants from the National Institutes of Health (DE022093, DE014899, DE018903).