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Bitte verwenden Sie diesen Link, wenn Sie dieses Dokument zitieren oder verlinken wollen: https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-75084

Phenotype Harmonization in the GLIDE2 Oral Health Genomics Consortium

  • Genetic risk factors play important roles in the etiology of oral, dental, and craniofacial diseases. Identifying the relevant risk loci and understanding their molecular biology could highlight new prevention and management avenues. Our current understanding of oral health genomics suggests that dental caries and periodontitis are polygenic diseases, and very large sample sizes and informative phenotypic measures are required to discover signals and adequately map associations across the human genome. In this article, we introduce the second wave of the Gene-Lifestyle Interactions and Dental Endpoints consortium (GLIDE2) and discuss relevant data analytics challenges, opportunities, and applications. In this phase, the consortium comprises a diverse, multiethnic sample of over 700,000 participants from 21 studies contributing clinical data on dental caries experience and periodontitis. We outline the methodological challenges of combining data from heterogeneous populations, as well as the data reduction problem in resolving detailed clinical examination records into tractable phenotypes, and describe a strategy that addresses this. Specifically, we propose a 3-tiered phenotyping approach aimed at leveraging both the large sample size in the consortium and the detailed clinical information available in some studies, wherein binary, severity-encompassing, and “precision,” data-driven clinical traits are employed. As an illustration of the use of data-driven traits across multiple cohorts, we present an application of dental caries experience data harmonization in 8 participating studies (N = 55,143) using previously developed permanent dentition tooth surface–level dental caries pattern traits. We demonstrate that these clinical patterns are transferable across multiple cohorts, have similar relative contributions within each study, and thus are prime targets for genetic interrogation in the expanded and diverse multiethnic sample of GLIDE2. We anticipate that results from GLIDE2 will decisively advance the knowledge base of mechanisms at play in oral, dental, and craniofacial health and disease and further catalyze international collaboration and data and resource sharing in genomics research.

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Metadaten
Author: K. Divaris, S. Haworth, J.R. Shaffer, V. Anttonen, J.D. Beck, Y. Furuichi, B. Holtfreter, D. Jönsson, T. Kocher, S.M. Levy, P.K.E. Magnusson, D.W. McNeil, K. Michaëlsson, K.E. North, U. Palotie, P.N. Papapanou, P.J. Pussinen, D. Porteous, K. Reis, A. Salminen, A.S. Schaefer, T. Sudo, Y.Q. Sun, A.L. Suominen, T. Tamahara, S.M. Weinberg, P. Lundberg, M.L. Marazita, I. Johansson
URN:urn:nbn:de:gbv:9-opus-75084
DOI:https://doi.org/10.1177/00220345221109775
ISSN:0022-0345
ISSN:1544-0591
Parent Title (English):Journal of Dental Research
Publisher:SAGE Publications
Place of publication:Los Angeles, CA
Document Type:Article
Language:English
Date of first Publication:2022/10/01
Release Date:2022/11/14
Tag:Genetics; data sciences; dental caries; dentition, permanent; epidemiology; genome-wide association study
GND Keyword:-
Volume:101
Issue:11
Page Number:9
First Page:1408
Last Page:1416
Faculties:Universitätsmedizin / Poliklinik für Kieferorthopädie, Präventive Zahnmedizin und Kinderzahnheilkunde
Licence (German):License LogoCreative Commons - Namensnennung