Genome-wide family-based study in torus palatinus affected individuals.
Exostosis
GWAS
Genetic variation
Torus palatinus
Transmission disequilibrium test
Journal
Archives of oral biology
ISSN: 1879-1506
Titre abrégé: Arch Oral Biol
Pays: England
ID NLM: 0116711
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
02
06
2021
revised:
22
07
2021
accepted:
26
07
2021
pubmed:
6
8
2021
medline:
14
9
2021
entrez:
5
8
2021
Statut:
ppublish
Résumé
Tori or exostoses are bony growths that appear in different oral regions. Torus palatinus, more specifically, develop in the palate midline and can impair proper word pronunciation and hinder the fabrication and use of dentures. Even though a multifactorial inheritance model has been suggested for torus palatinus appearance, precise genetic factors involved in its etiology remain unclear. Hence, in this study we aimed to identify variants across the genome of individuals from 46 Filipino families that associate with torus palatinus. All families were composed of fishermen or landless rural dwellers who provided blood samples for DNA extraction and genotyping. A total of 3519 single nucleotide polymorphisms (SNPs) were analyzed through a transmission disequilibrium test in individuals affected by torus palatinus and their unaffected family members. Fourteen SNPs showed trends for associations to the level of p < .005 threshold and several others were nominally (p < .05) associated with torus palatinus. We highlight SNP rs6582285, which is located in the CAPS2 gene, being the C allele less transmitted than the T allele in our sample. The C allele of CAPS2 rs6582285 protects from having torus palatinus whereas the other associations found were linked to an increased risk of developing the condition. Trends for associations were identified for several markers across the genome, supporting the hypothesis that torus palatinus has a multifactorial mode of inheritance. We hope that our study contributes to a better understanding of torus palatinus etiology and helps guide future research in examining genes for this often-overlooked condition in different populations.
Identifiants
pubmed: 34352448
pii: S0003-9969(21)00184-9
doi: 10.1016/j.archoralbio.2021.105221
pmc: PMC8434990
mid: NIHMS1730720
pii:
doi:
Substances chimiques
CAPS2 protein, human
0
Calcium-Binding Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
105221Subventions
Organisme : NIDCR NIH HHS
ID : R21 DE016718
Pays : United States
Organisme : NCATS NIH HHS
ID : TL1 TR001858
Pays : United States
Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.
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