Rare and Common Variants Conferring Risk of Tooth Agenesis
| Autor: | Fernando Rivadeneira, Mark Zervas, Daniel F. Gudbjartsson, Bjarke Feenstra, Thordur Eydal Magnusson, Hreinn Stefansson, Sigurgeir Olafsson, Stacy Steinberg, Lina Jonsson, Mariana Santos, G B Walters, L. M. Moreno Uribe, B.J. Howe, Asmundur Oddsson, Ellen A. Nohr, Larus J. Gudmundsson, Kari Stefansson, A Thordarson, Frank Geller, Mary L. Marazita, Mads Melbye, Elizabeth J. Leslie, Edwin M. Ongkosuwito, Eppo B. Wolvius, Teresa Pinho, Muhammad Nawaz, Isabel Alonso, Brunilda Dhamo, Unnur Unnsteinsdottir, Gyda Bjornsdottir, Omar Gustafsson, Thorvaldur Jonsson, Strahinja Vucic, G Audolfsson, R Jonsson, Andres Ingason |
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| Přispěvatelé: | Erasmus MC other, Oral and Maxillofacial Surgery, Internal Medicine, Epidemiology |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Candidate gene Tooth eruption Iceland Genome-wide association study Disease Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Risk Factors Molecular genetics medicine Journal Article Humans genetics oligodontia General Dentistry Iceland/epidemiology Anodontia Genetics business.industry Research Reports 030206 dentistry medicine.disease Polymorphism Single Nucleotide/genetics Genetic architecture Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] Hypodontia stomatognathic diseases 030104 developmental biology orofacial cleft(s) Anodontia/epidemiology molecular genetics Etiology hypodontia odontogenesis Female business Genome-Wide Association Study |
| Zdroj: | 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 of Dental Research, 97, 515-522 Journal of Dental Research, 97(5), 515-522. SAGE Publishing Journal of Dental Research, 97, 5, pp. 515-522 |
| ISSN: | 0022-0345 |
| Popis: | Item does not contain fulltext 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. |
| Databáze: | OpenAIRE |
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