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
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 in Journal/Newspaper
Language:English
Published: 2018
Subjects:
Journal Article
molecular genetics
genetics
hypodontia
odontogenesis
oligodontia
orofacial cleft(s)
Genome-Wide Association Study
Anodontia/epidemiology
Humans
Risk Factors
Male
Polymorphism
Single Nucleotide/genetics
Female
Iceland/epidemiology
Iceland
Online Access:https://portal.findresearcher.sdu.dk/da/publications/4e60d06e-f5d7-4098-94a2-4ff1bd6b315b
https://doi.org/10.1177/0022034517750109
https://findresearcher.sdu.dk/ws/files/151867644/Jonsson_L.ab_Rare_and_Common_Variants_Conferring_Risk_of_Tooth_Agenesis_Article_in_press_.pdf
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.

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