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

Dmitry Shungin, Simon Haworth, Kimon Divaris, Cary Agler, Yoichiro Kamatani, Myoung Keun Lee, Kelsey Grinde, George Hindy, Viivi Viivi Alaraudanjoki, Paula Pesonen, Alexander Teumer, Birte Holtfreter, Saori Sakaue, Jun Hirata, Yau-Hua Yu, Paul Ridker, Franco Giulianini, Daniel I. Chasman, Patrik K E Magnusson, Takeaki SudoYukinori Okada, Uwe Völker, Thomas Kocher, Vuokko Anttonen, Marja-Liisa Laitala, Marji Orho-Melander, Tamar Sofer, John R Shaffer, Alexandre Vieira, Mary L Marazita, Michiaki Kubo, Yasushi Furuichi, Kari North, Steve Offenbacher, Erik Ingelsson, Paul W Franks, Nicholas Timpson, Ingegerd Johansson

Research output: Contribution to journalArticle (Academic Journal)peer-review

156 Citations (Scopus)
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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.
Original languageEnglish
Article number2773
Number of pages13
JournalNature Communications
Publication statusPublished - 24 Jun 2019


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


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