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 & 16 others 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

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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.

Original languageEnglish
JournalJournal of Dental Research
Volume97
Issue number5
Pages (from-to)515-522
ISSN0022-0345
DOIs
Publication statusPublished - May 2018

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Mouth Rehabilitation
Third Molar
Genome-Wide Association Study

Keywords

  • 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

Cite this

Jonsson, L., Magnusson, T. E., Thordarson, A., Jonsson, T., Geller, F., Feenstra, B., ... Stefansson, K. (2018). Rare and Common Variants Conferring Risk of Tooth Agenesis. Journal of Dental Research, 97(5), 515-522. https://doi.org/10.1177/0022034517750109
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. / Rare and Common Variants Conferring Risk of Tooth Agenesis. In: Journal of Dental Research. 2018 ; Vol. 97, No. 5. pp. 515-522.
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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.",
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Jonsson, L, Magnusson, TE, Thordarson, A, Jonsson, T, Geller, F, Feenstra, B, Melbye, M, Nohr, EA, Vucic, S, Dhamo, B, Rivadeneira, F, Ongkosuwito, EM, Wolvius, EB, Leslie, EJ, Marazita, ML, Howe, BJ, Moreno Uribe, LM, Alonso, I, Santos, M, Pinho, T, Jonsson, R, Audolfsson, G, Gudmundsson, L, Nawaz, MS, Olafsson, S, Gustafsson, O, Ingason, A, Unnsteinsdottir, U, Bjornsdottir, G, Walters, GB, Zervas, M, Oddsson, A, Gudbjartsson, DF, Steinberg, S, Stefansson, H & Stefansson, K 2018, 'Rare and Common Variants Conferring Risk of Tooth Agenesis', Journal of Dental Research, vol. 97, no. 5, pp. 515-522. https://doi.org/10.1177/0022034517750109

Rare and Common Variants Conferring Risk of Tooth Agenesis. / 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.

In: Journal of Dental Research, Vol. 97, No. 5, 05.2018, p. 515-522.

Research output: Contribution to journalJournal articleResearchpeer-review

TY - JOUR

T1 - Rare and Common Variants Conferring Risk of Tooth Agenesis

AU - Jonsson, L

AU - Magnusson, T E

AU - Thordarson, A

AU - Jonsson, T

AU - Geller, F

AU - Feenstra, B

AU - Melbye, M

AU - Nohr, E A

AU - Vucic, S

AU - Dhamo, B

AU - Rivadeneira, F

AU - Ongkosuwito, E M

AU - Wolvius, E B

AU - Leslie, E J

AU - Marazita, M L

AU - Howe, B J

AU - Moreno Uribe, L M

AU - Alonso, I

AU - Santos, M

AU - Pinho, T

AU - Jonsson, R

AU - Audolfsson, G

AU - Gudmundsson, L

AU - Nawaz, M S

AU - Olafsson, S

AU - Gustafsson, O

AU - Ingason, A

AU - Unnsteinsdottir, U

AU - Bjornsdottir, G

AU - Walters, G B

AU - Zervas, M

AU - Oddsson, A

AU - Gudbjartsson, D F

AU - Steinberg, S

AU - Stefansson, H

AU - Stefansson, K

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

KW - Journal Article

KW - molecular genetics

KW - genetics

KW - hypodontia

KW - odontogenesis

KW - oligodontia

KW - orofacial cleft(s)

KW - Genome-Wide Association Study

KW - Anodontia/epidemiology

KW - Humans

KW - Risk Factors

KW - Male

KW - Polymorphism, Single Nucleotide/genetics

KW - Female

KW - Iceland/epidemiology

U2 - 10.1177/0022034517750109

DO - 10.1177/0022034517750109

M3 - Journal article

VL - 97

SP - 515

EP - 522

JO - Journal of Dental Research

JF - Journal of Dental Research

SN - 0022-0345

IS - 5

ER -

Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B et al. Rare and Common Variants Conferring Risk of Tooth Agenesis. Journal of Dental Research. 2018 May;97(5):515-522. https://doi.org/10.1177/0022034517750109