Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data

Nat Commun. 2019 Jun 24;10(1):2773. doi: 10.1038/s41467-019-10630-1.


Dental caries and periodontitis account for a vast burden of morbidity and healthcare spending, yet their genetic basis remains largely uncharacterized. Here, we identify self-reported dental disease proxies which have similar underlying genetic contributions to clinical disease measures and then combine these in a genome-wide association study meta-analysis, identifying 47 novel and conditionally-independent risk loci for dental caries. We show that the heritability of dental caries is enriched for conserved genomic regions and partially overlapping with a range of complex traits including smoking, education, personality traits and metabolic measures. Using cardio-metabolic traits as an example in Mendelian randomization analysis, we estimate causal relationships and provide evidence suggesting that the processes contributing to dental caries may have undesirable downstream effects on health.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dental Caries / epidemiology
  • Dental Caries / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genomics
  • Heredity
  • Humans
  • Mendelian Randomization Analysis
  • Periodontitis / epidemiology
  • Periodontitis / genetics*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci / genetics
  • Self Report / statistics & numerical data