Rare and Common Variants Conferring Risk of Tooth Agenesis

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously ide...

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Bibliographic Details
Published in:Journal of dental research 2018-05, Vol.97 (5), p.515-522
Main Authors: Jonsson, L., Magnusson, T.E., Thordarson, A., Jonsson, T., Geller, F., Feenstra, B., Melbye, M., Nohr, E.A., Vucic, S., Dhamo, B., Rivadeneira, F., Ongkosuwito, E.M., Wolvius, E.B., Leslie, E.J., Marazita, M.L., Howe, B.J., Moreno Uribe, L.M., Alonso, I., Santos, M., Pinho, T., Jonsson, R., Audolfsson, G., Gudmundsson, L., Nawaz, M.S., Olafsson, S., Gustafsson, O., Ingason, A., Unnsteinsdottir, U., Bjornsdottir, G., Walters, G.B., Zervas, M., Oddsson, A., Gudbjartsson, D.F., Steinberg, S., Stefansson, H., Stefansson, K.
Format: Article
Language:English
Subjects:
3rd molar agenesis
Anodontia - epidemiology
Anodontia - etiology
Anodontia - genetics
cleft-lip
Dentistry
ectodermal dysplasia
ectodysplasin-a
Etiology
Female
Genes
genetics
genome-wide association
Genome-wide association studies
Genome-Wide Association Study
Genomes
Health insurance
Humans
hypodontia
Iceland - epidemiology
lateral incisor
Male
Medical Genetics
Medicinsk genetik
metaanalysis
Molars
molecular genetics
mutation
odontogenesis
Odontologi
oligodontia
orofacial cleft(s)
Orofacial clefts
permanent teeth
Polymorphism, Single Nucleotide - genetics
prevalence
Rehabilitation
Research Reports
Risk Factors
Studies
Teeth
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Description
Summary:We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
ISSN:0022-0345
1544-0591
DOI:10.1177/0022034517750109