Author ORCID Identifier
https://orcid.org/0000-0002-5126-2460
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Document Type
Article
Publication Date
2018
College/Unit
School of Dentistry
Department/Program/Center
Dental Practice & Rural Health
Abstract
Background: Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited.
Methods: To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here.
Results: Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19.
Conclusions: These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease.
Digital Commons Citation
Govil, Manika; Mukhopadhyay, Nandita; Weeks, Daniel E.; Feingold, Eleanor; Shaffer, John R.; Levy, Steven M.; Vieira, Alexandre R.; Slayton, Rebecca L.; McNeil, Daniel W.; Weyant, Robert J.; Crout, Richard J.; and Marazita, Mary L., "Novel caries loci in children and adults implicated by genome-wide analysis of families" (2018). Faculty & Staff Scholarship. 1671.
https://researchrepository.wvu.edu/faculty_publications/1671
Source Citation
Govil, M., Mukhopadhyay, N., Weeks, D. E., Feingold, E., Shaffer, J. R., Levy, S. M., Vieira, A. R., Slayton, R. L., McNeil, D. W., Weyant, R. J., Crout, R. J., & Marazita, M. L. (2018). Novel caries loci in children and adults implicated by genome-wide analysis of families. BMC Oral Health, 18(1). https://doi.org/10.1186/s12903-018-0559-6
Included in
Biostatistics Commons, Epidemiology Commons, Genetic Processes Commons, Genetic Structures Commons, Pediatric Dentistry and Pedodontics Commons, Periodontics and Periodontology Commons, Psychiatry and Psychology Commons
Comments
© The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.