University of Oulu

Shungin, D., Haworth, S., Divaris, K. et al. Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. Nat Commun 10, 2773 (2019).

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

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Author: Shungin, Dmitry1,2; Hawort, Simon3,4; Divaris, Kimon5,6;
Organizations: 1Umea Univ, Dept Odontol, SE-90185 Umea, Sweden.
2Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
3Univ Bristol Sch Med, MRC, Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.
4Bristol Dent Sch, Bristol BS1 2LY, Avon, England.
5Univ N Carolina, Sch Dent, Dept Pediat Dent, Chapel Hill, NC 27599 USA.
6Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC 27599 USA.
7Univ N Carolina, Dept Oral & Craniofacial Hlth Sci, Chapel Hill, NC 27599 USA.
8RIKEN, Ctr Integrat Med Sci, Yokohama, Kanagawa 2300045, Japan.
9Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Sch Dent Med, Pittsburgh, PA 15219 USA.
10Univ Washington, Dept Biostat, Seattle, WA 98195 USA.
11Lund Univ, SE-22362 Lund, Sweden.
12Univ Oulu, Res Unit Oral Hlth Sci, FI-90014 Oulu, Finland.
13Univ Oulu, Fac Med, Infrastruct Populat Studies, FI-90014 Oulu, Finland.
14Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany.
15Univ Med Greifswald, Dept Restorat Dent Periodontol Endodontol & Preve, D-17475 Greifswald, Germany.
16Osaka Univ, Dept Stat Genet, Grad Sch Med, Suita, Osaka 5650871, Japan.
17Brigham & Womens Hosp, Div Prevent Med, Boston, MA 02215 USA.
18Tufts Univ, Dept Periodontol, Sch Dent Med, Boston, MA 02111 USA.
19Harvard Med Sch, Boston, MA 02115 USA.
20Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
21Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Periodontol, Tokyo 1138510, Japan.
22Univ Med Greifswald, Interfac Inst Genet & Funct Genom, Dept Funct Genom, D-17475 Greifswald, Germany.
23Oulu Univ Hosp, MRC, FI-90014 Oulu, Finland.
24Univ Oulu, FI-90014 Oulu, Finland.
25Brigham & Womens Hosp, Dept Sleep Med, Boston, MA 02130 USA.
26Univ Pittburgh, Dept Human Genet, Pittsburgh, PA 15261 USA.
27Univ Pittsburgh, Dept Oral Biol, Pittsburgh, PA 15213 USA.
28Univ Hokkaido, Sch Dent, Dept Oral Rehabil, Hlth Sci,Div Periodontol & Endodontol, Tobetsu, Hokkaido 0610293, Japan.
29Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27516 USA.
30Univ N Carolina, Dept Periodontol, Chapel Hill, NC 27599 USA.
31Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA.
32Stanford Univ, Stanford Cardiovasc Inst, Stanford, CA 94305 USA.
33Stanford Univ, Stanford Diabet Res Ctr, Stanford, CA 94305 USA.
34Lund Univ, Dept Clin Sci, Genet & Mol Epidemiol Unit, SE-21428 Malmo, Sweden.
35Umea Univ, Dept Publ Hlth & Clin Med, SE-90187 Umea, Sweden.
36Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.2 MB)
Persistent link:
Language: English
Published: Springer Nature, 2019
Publish Date: 2020-03-12


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.

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Series: Nature communications
ISSN: 2041-1723
ISSN-E: 2041-1723
ISSN-L: 2041-1723
Volume: 10
Article number: 2773
DOI: 10.1038/s41467-019-10630-1
Type of Publication: A1 Journal article – refereed
Field of Science: 313 Dentistry
Funding: We are very grateful to all study participants and staff for their contributions to this research. Studies in GLIDE and the authors of this work receive funding from numerous sources who are acknowledged in full in Supplementary Note 1. This research has been conducted using the UK Biobank Resource (Application; 40644). The LDHub and PhenoScanner resources are made possible by studies and databases which made GWAS summary data available. These are listed in full online at and We are grateful to all GWAS consortia for making data available on metabolic traits and cardiovascular outcomes, and these are listed in Supplementary Note 1.
Copyright information: © The Author(s) 2019. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit