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Photo: KG Pressfoto

Marju Orho-Melander


Photo: KG Pressfoto

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


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

Summary, in English

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.


  • Diabetes - Cardiovascular Disease
  • EXODIAB: Excellence of Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health
  • Genetic and Molecular Epidemiology

Publishing year





Nature Communications





Document type

Journal article


Nature Publishing Group


  • Medical Genetics
  • Dentistry



Research group

  • Diabetes - Cardiovascular Disease
  • Genetic and Molecular Epidemiology


  • ISSN: 2041-1723