4.4 Article

Genome-wide family-based study in torus palatinus affected individuals

Journal

ARCHIVES OF ORAL BIOLOGY
Volume 130, Issue -, Pages -

Publisher

PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.archoralbio.2021.105221

Keywords

Torus palatinus; Exostosis; Genetic variation; Transmission disequilibrium test; GWAS

Funding

  1. NIDCR/NIH [R21-DE16718]
  2. National Center for Advancing Translational Sciences of the National Institutes of Health [TL1TR001858]

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A study conducted on individuals from 46 Filipino families identified genetic variants associated with torus palatinus. These variants, including SNP rs6582285 in the CAPS2 gene, were found to be linked to the risk of developing the condition. The findings support a multifactorial mode of inheritance for torus palatinus.
Objective: 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. Design: 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. Results: 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. Conclusions: 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.

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