Rare and Common Variants Conferring Risk of Tooth Agenesis

L Jonsson; T.E Magnusson; A Thordarson; T Jonsson; F Geller; B Feenstra; M Melbye; E.A Nohr; S Vucic; B Dhamo; F Rivadeneira; E.M Ongkosuwito; E.B Wolvius; E.J Leslie; M.L Marazita; B.J Howe; L.M Moreno Uribe; I Alonso; M Santos; T Pinho; R Jonsson; G Audolfsson; L Gudmundsson; M.S Nawaz; S Olafsson; O Gustafsson; A Ingason; U Unnsteinsdottir; G Bjornsdottir; G.B Walters; M Zervas; A Oddsson; D.F Gudbjartsson; S Steinberg; H Stefansson; K Stefansson

doi:10.1177/0022034517750109

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Rare and Common Variants Conferring Risk of Tooth Agenesis

Journal article

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Rare and Common Variants Conferring Risk of Tooth Agenesis

L Jonsson, T.E Magnusson, A Thordarson, T Jonsson, F Geller, B Feenstra, M Melbye, E.A Nohr, S Vucic, B Dhamo, …

Journal of dental research, Vol.97(5), pp.515-522

05/2018

DOI: 10.1177/0022034517750109

PMCID: PMC5958369

PMID: 29364747

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Abstract

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.

Molecular Genetics

Genetics

hypodontia

odontogenesis

oligodontia

orofacial cleft(s)

Research Reports

Details

Title: Subtitle: Rare and Common Variants Conferring Risk of Tooth Agenesis
Creators: L Jonsson - deCODE genetics/Amgen, Reykjavik, Iceland
T.E Magnusson - Faculty of Odontology, University of Iceland, Reykjavík, Iceland
A Thordarson - Faculty of Odontology, University of Iceland, Reykjavík, Iceland
T Jonsson - Faculty of Odontology, University of Iceland, Reykjavík, Iceland
F Geller - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
B Feenstra - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
M Melbye - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
E.A Nohr - Research Unit for Gynaecology and Obstetrics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark
S Vucic - Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands
B Dhamo - Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands
F Rivadeneira - Generation R Study Group, Erasmus University Medical Centre, Rotterdam, The Netherlands
E.M Ongkosuwito - Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands
E.B Wolvius - Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands
E.J Leslie - Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA
M.L Marazita - Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA
B.J Howe - Department of Family Dentistry, College of Dentistry, University of Iowa, Iowa City, IA, USA
L.M Moreno Uribe - Department of Family Dentistry, College of Dentistry, University of Iowa, Iowa City, IA, USA
I Alonso - i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
M Santos - i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
T Pinho - i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
R Jonsson - Icelandic Health Insurance, Reykjavík, Iceland
G Audolfsson - Department of Plastic Surgery, Landspitali-University Hospital, Reykjavik, Iceland
L Gudmundsson - deCODE genetics/Amgen, Reykjavik, Iceland
M.S Nawaz - deCODE genetics/Amgen, Reykjavik, Iceland
S Olafsson - deCODE genetics/Amgen, Reykjavik, Iceland
O Gustafsson - deCODE genetics/Amgen, Reykjavik, Iceland
A Ingason - deCODE genetics/Amgen, Reykjavik, Iceland
U Unnsteinsdottir - deCODE genetics/Amgen, Reykjavik, Iceland
G Bjornsdottir - deCODE genetics/Amgen, Reykjavik, Iceland
G.B Walters - deCODE genetics/Amgen, Reykjavik, Iceland
M Zervas - deCODE genetics/Amgen, Reykjavik, Iceland
A Oddsson - deCODE genetics/Amgen, Reykjavik, Iceland
D.F Gudbjartsson - deCODE genetics/Amgen, Reykjavik, Iceland
S Steinberg - deCODE genetics/Amgen, Reykjavik, Iceland
H Stefansson - deCODE genetics/Amgen, Reykjavik, Iceland
K Stefansson - deCODE genetics/Amgen, Reykjavik, Iceland
Resource Type: Journal article
Publication Details: Journal of dental research, Vol.97(5), pp.515-522
DOI: 10.1177/0022034517750109
PMID: 29364747
PMCID: PMC5958369
NLM abbreviation: J Dent Res
ISSN: 0022-0345
eISSN: 1544-0591
Publisher: SAGE Publications; Sage CA: Los Angeles, CA
Language: English
Date published: 05/2018
Academic Unit: Orthodontics; Dental Clinic Administration; Craniofacial Anomalies Research Center; Family Dentistry; Dental Research
Record Identifier: 9984065700602771

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