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

• Published in: Nature communications Vol. 10; no. 1; pp. 2773 - 13
• Main Authors: Shungin, Dmitry, Haworth, Simon, Divaris, Kimon, Agler, Cary S., Kamatani, Yoichiro, Keun Lee, Myoung, Grinde, Kelsey, Hindy, George, Alaraudanjoki, Viivi, Pesonen, Paula, Teumer, Alexander, Holtfreter, Birte, Sakaue, Saori, Hirata, Jun, Yu, Yau-Hua, Ridker, Paul M., Giulianini, Franco, Chasman, Daniel I., Magnusson, Patrik K. E., Sudo, Takeaki, Okada, Yukinori, Völker, Uwe, Kocher, Thomas, Anttonen, Vuokko, Laitala, Marja-Liisa, Orho-Melander, Marju, Sofer, Tamar, Shaffer, John R., Vieira, Alexandre, Marazita, Mary L., Kubo, Michiaki, Furuichi, Yasushi, North, Kari E., Offenbacher, Steve, Ingelsson, Erik, Franks, Paul W., Timpson, Nicholas J., Johansson, Ingegerd
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24.06.2019; Nature Publishing Group; Nature Portfolio
• Subjects: 45/43; 631/208/1516; 631/208/205/2138; 692/308/174; 692/699/3020; Basic Medicine; Clinical Medicine; Dental caries; Dental Caries - epidemiology; Dental Caries - genetics; Dental disorders; Downstream effects; Fluoridation; Genetic Predisposition to Disease; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Gum disease; Heredity; Heritability; Humanities and Social Sciences; Humans; Klinisk medicin; Medical and Health Sciences; Medical Genetics and Genomics (including Gene Therapy); Medicin och hälsovetenskap; Medicinsk genetik och genomik (Här ingår: Genterapi); Medicinska och farmaceutiska grundvetenskaper; Mendelian Randomization Analysis; Metabolism; Morbidity; multidisciplinary; Odontologi; Odontology; Periodontitis; Periodontitis - epidemiology; Periodontitis - genetics; Polymorphism, Single Nucleotide; Quantitative Trait Loci - genetics; Science; Science (multidisciplinary); Self Report - statistics & numerical data; Smoking
• ISSN: 2041-1723; 2041-1723
• 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. Dental caries and periodontitis are among the most common medical conditions. Here, the authors report a GWAS for measures of oral health that reveals 47 risk loci for caries, find genetic correlation with 31 other complex traits and use Mendelian randomization analyses to explore potential causal relationships.