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...
Published in: | Journal of Dental Research |
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2018
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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 |
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ftsydanskunivpub:oai:sdu.dk:publications/4e60d06e-f5d7-4098-94a2-4ff1bd6b315b 2023-05-15T16:49:56+02:00 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 2018-05 application/pdf 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 eng eng info:eu-repo/semantics/openAccess 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 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 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 article 2018 ftsydanskunivpub https://doi.org/10.1177/0022034517750109 2022-08-14T09:49:02Z 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. Article in Journal/Newspaper Iceland University of Southern Denmark Research Portal Journal of Dental Research 97 5 515 522 |
institution |
Open Polar |
collection |
University of Southern Denmark Research Portal |
op_collection_id |
ftsydanskunivpub |
language |
English |
topic |
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 |
spellingShingle |
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 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 |
topic_facet |
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 |
description |
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. |
format |
Article in Journal/Newspaper |
author |
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 |
author_facet |
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 |
author_sort |
Jonsson, L |
title |
Rare and Common Variants Conferring Risk of Tooth Agenesis |
title_short |
Rare and Common Variants Conferring Risk of Tooth Agenesis |
title_full |
Rare and Common Variants Conferring Risk of Tooth Agenesis |
title_fullStr |
Rare and Common Variants Conferring Risk of Tooth Agenesis |
title_full_unstemmed |
Rare and Common Variants Conferring Risk of Tooth Agenesis |
title_sort |
rare and common variants conferring risk of tooth agenesis |
publishDate |
2018 |
url |
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 |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
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 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 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1177/0022034517750109 |
container_title |
Journal of Dental Research |
container_volume |
97 |
container_issue |
5 |
container_start_page |
515 |
op_container_end_page |
522 |
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1766040115128303616 |