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J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24.

Rare and Common Variants Conferring Risk of Tooth Agenesis.

Author information

1
1 deCODE genetics/Amgen, Reykjavik, Iceland.
2
2 Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
3
3 Faculty of Odontology, University of Iceland, Reykjavík, Iceland.
4
4 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
5
5 Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
6
6 Department of Medicine, School of Medicine, Stanford University, Stanford, California, USA.
7
7 Research Unit for Gynaecology and Obstetrics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
8
8 Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
9
9 Generation R Study Group, Erasmus University Medical Centre, Rotterdam, The Netherlands.
10
10 Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
11
11 Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
12
12 Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
13
13 Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
14
14 Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
15
15 Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
16
16 Department of Family Dentistry, College of Dentistry, University of Iowa, Iowa City, IA, USA.
17
17 i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
18
18 UnIGENe, Instituto Biologia Molecular Celular, Universidade do Porto, Porto, Portugal.
19
19 CESPU, Instituto de Investigacão e Formação Avançada em Ciências e Tecnologias da Saúde, Rua Central de Gandra, Gandra-PRD, Portugal.
20
20 Icelandic Health Insurance, Reykjavík, Iceland.
21
21 Department of Plastic Surgery, Landspitali-University Hospital, Reykjavik, Iceland.
22
22 Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

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.

KEYWORDS:

genetics; hypodontia; molecular genetics; odontogenesis; oligodontia; orofacial cleft(s)

PMID:
29364747
PMCID:
PMC5958369
[Available on 2019-05-01]
DOI:
10.1177/0022034517750109

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