Mariana Bezamat1, Yuqiao Zhou2, Timothy Park1, Alexandre R Vieira3. 1. Department of Oral & Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA. 2. Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA. 3. Department of Oral & Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: arv11@pitt.edu.
Abstract
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.
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.
Authors: Joseph L Belsky; Josephine S Hamer; Janet E Hubert; Karl Insogna; William Johns Journal: J Clin Endocrinol Metab Date: 2003-05 Impact factor: 5.958
Authors: Celia L Gregson; Dylan J M Bergen; Paul Leo; Richard B Sessions; Lawrie Wheeler; April Hartley; Scott Youlten; Peter I Croucher; Aideen M McInerney-Leo; William Fraser; Jonathan Cy Tang; Lisa Anderson; Mhairi Marshall; Leon Sergot; Lavinia Paternoster; George Davey Smith; Matthew A Brown; Chrissy Hammond; John P Kemp; Jon H Tobias; Emma L Duncan Journal: J Bone Miner Res Date: 2019-11-14 Impact factor: 6.390