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

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. PinhoR. 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^*

^*Corresponding author for this work

Department of Clinical Medicine

14 Citations (Scopus)

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 language	English
Journal	Journal of Dental Research
Volume	97
Issue number	5
Pages (from-to)	515-522
Number of pages	8
ISSN	0022-0345
DOIs	https://doi.org/10.1177/0022034517750109
Publication status	Published - 2018

Keywords

genetics
hypodontia
molecular genetics
odontogenesis
oligodontia
orofacial cleft(s)

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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., ... 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, 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

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title = "Rare and Common Variants Conferring Risk of Tooth Agenesis",

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)",

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

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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

Y1 - 2018

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 - genetics

KW - hypodontia

KW - molecular genetics

KW - odontogenesis

KW - oligodontia

KW - orofacial cleft(s)

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DO - 10.1177/0022034517750109

M3 - Journal article

C2 - 29364747

AN - SCOPUS:85045041833

SN - 0022-0345

VL - 97

SP - 515

EP - 522

JO - Journal of Dental Research

JF - Journal of Dental Research

IS - 5

ER -

Rare and Common Variants Conferring Risk of Tooth Agenesis

Abstract

Keywords

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