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Protocols, methods, and tools for genome-wide association studies (GWAS) of dental traits
Oral and Craniofacial Health Sciences, UNC School of Dentistry, University of North Carolina-Chapel Hill, NC, Chapel Hill, United States.
Umeå University, Faculty of Medicine, Department of Odontology. Broad Institute of the Massachusetts Institute of Technology and Harvard University, MA, Cambridge, United States.
Department of Comprehensive Dentistry, Tufts University School of Dental Medicine, Tufts University, MA, Boston, United States.
Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina-Chapel Hill, NC, Chapel Hill, United States; Biospecimen Core Processing Facility, Gillings School of Global Public Health, University of North Carolina-Chapel Hill, NC, Chapel Hill, United States.
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2019 (English)In: Odontogenesis: methods and protocols / [ed] Petros Papagerakis, Humana Press, 2019, , p. 17p. 493-509Chapter in book (Refereed)
Abstract [en]

Oral health and disease are known to be influenced by complex interactions between environmental (e.g., social and behavioral) factors and innate susceptibility. Although the exact contribution of genomics and other layers of "omics" to oral health is an area of active research, it is well established that the susceptibility to dental caries, periodontal disease, and other oral and craniofacial traits is substantially influenced by the human genome. A comprehensive understanding of these genomic factors is necessary for the realization of precision medicine in the oral health domain. To aid in this direction, the advent and increasing affordability of high-throughput genotyping has enabled the simultaneous interrogation of millions of genetic polymorphisms for association with oral and craniofacial traits. Specifically, genome-wide association studies (GWAS) of dental caries and periodontal disease have provided initial insights into novel loci and biological processes plausibly implicated in these two common, complex, biofilm-mediated diseases. This paper presents a summary of protocols, methods, tools, and pipelines for the conduct of GWAS of dental caries, periodontal disease, and related traits. The protocol begins with the consideration of different traits for both diseases and outlines procedures for genotyping, quality control, adjustment for population stratification, heritability and association analyses, annotation, reporting, and interpretation. Methods and tools available for GWAS are being constantly updated and improved; with this in mind, the presented approaches have been successfully applied in numerous GWAS and meta-analyses among tens of thousands of individuals, including dental traits such as dental caries and periodontal disease. As such, they can serve as a guide or template for future genomic investigations of these and other traits.

Place, publisher, year, edition, pages
Humana Press, 2019. , p. 17p. 493-509
Series
Methods in molecular biology, ISSN 1064-3745, E-ISSN 1940-6029 ; 1922
Keywords [en]
Bioinformatics, Dental caries, Genome-wide association studies, Methods, Periodontal disease, Periodontitis, Protocol
National Category
Dentistry
Identifiers
URN: urn:nbn:se:umu:diva-203366DOI: 10.1007/978-1-4939-9012-2_38ISI: 000683378900037PubMedID: 30838596Scopus ID: 2-s2.0-85058857962ISBN: 9781493990115 (print)ISBN: 9781493990122 (electronic)OAI: oai:DiVA.org:umu-203366DiVA, id: diva2:1729129
Funder
NIH (National Institutes of Health), R56-027055Available from: 2023-01-19 Created: 2023-01-19 Last updated: 2025-04-24Bibliographically approved

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Shungin, Dmitry

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