Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg
ObjectiveTorus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.Materials and MethodsWe assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome‐wide association study (GWAS) to identify common variants associated with TP. We also performed gene‐based tests across the exome to investigate the role of low‐frequency coding variants.ResultsOur GWAS did not identify any genome‐wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with p‐values less than 5 × 10−6. Candidate genes at these suggestive loci have been implicated in normal‐range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low‐frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP.ConclusionThese findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.
{"title":"Genome scan reveals several loci associated with torus palatinus","authors":"Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg","doi":"10.1111/ocr.12857","DOIUrl":"https://doi.org/10.1111/ocr.12857","url":null,"abstract":"ObjectiveTorus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.Materials and MethodsWe assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome‐wide association study (GWAS) to identify common variants associated with TP. We also performed gene‐based tests across the exome to investigate the role of low‐frequency coding variants.ResultsOur GWAS did not identify any genome‐wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with <jats:italic>p</jats:italic>‐values less than 5 × 10<jats:sup>−6</jats:sup>. Candidate genes at these suggestive loci have been implicated in normal‐range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low‐frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP.ConclusionThese findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":"32 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To evaluate the airway space in bilateral idiopathic condylar resorption (ICR) patients and analyse the correlation between the morphological characteristics of the condyles and airway parameters. In all, 35 female patients with bilateral ICR (mean age: 21.6 years) and 35 age‐matched female controls (mean age: 21.3 years) were included. Airway parameters were measured using CBCT. Independent T‐tests were used to analyse the differences between the bilateral ICR group and the control group, and then the correlation between airway parameters and condylar parameters was detected using Pearson correlation analysis. p < .05 was considered statistically significant. Patients with bilateral ICR showed a significant decrease in airway volume, minimum axial area and sagittal sectional area (p < .05). The bilateral condylar axial angle positively correlated with airway volume and sagittal sectional area (p < .05). In contrast, the bilateral condylar neck angle negatively correlated with sagittal sectional area (p < .05). None of the condylar parameters showed a correlation with minimum axial area of the airway in the bilateral ICR group (p > .05). Bilateral ICR significantly affects patients' airway space. The condylar axial angle and neck angle correlate with airway parameters.
{"title":"Correlation analysis of airway space and condylar morphology in bilateral idiopathic condylar resorption patients","authors":"Yanfang Yu, Xueyan Xia, Lehan Xu, Xiaoyan Chen, Ningning Zhang, Mengjie Wu","doi":"10.1111/ocr.12855","DOIUrl":"https://doi.org/10.1111/ocr.12855","url":null,"abstract":"To evaluate the airway space in bilateral idiopathic condylar resorption (ICR) patients and analyse the correlation between the morphological characteristics of the condyles and airway parameters. In all, 35 female patients with bilateral ICR (mean age: 21.6 years) and 35 age‐matched female controls (mean age: 21.3 years) were included. Airway parameters were measured using CBCT. Independent T‐tests were used to analyse the differences between the bilateral ICR group and the control group, and then the correlation between airway parameters and condylar parameters was detected using Pearson correlation analysis. <jats:italic>p</jats:italic> < .05 was considered statistically significant. Patients with bilateral ICR showed a significant decrease in airway volume, minimum axial area and sagittal sectional area (<jats:italic>p</jats:italic> < .05). The bilateral condylar axial angle positively correlated with airway volume and sagittal sectional area (<jats:italic>p</jats:italic> < .05). In contrast, the bilateral condylar neck angle negatively correlated with sagittal sectional area (<jats:italic>p</jats:italic> < .05). None of the condylar parameters showed a correlation with minimum axial area of the airway in the bilateral ICR group (<jats:italic>p</jats:italic> > .05). Bilateral ICR significantly affects patients' airway space. The condylar axial angle and neck angle correlate with airway parameters.","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":"6 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joseph G. Ghafari, Eliane G. Ziade, Ammar Kassab, Maria Saadeh, Anthony T. Macari
AimEvaluate constitutional differences in chin morphology and volume, and mandibular tooth size, between different facial divergence patterns.Materials and MethodsThe sample consisted of 284 pretreatment cone beam computed tomography (CBCT) images of growing and non‐growing patients who were stratified into 4 groups based on mandibular plane inclination to cranial base (SN) angle. Linear and angular measurements were made on the lateral CBCT images: mandibular lateral incisor crown (I‐C) total (I‐A) lengths, the distances between point D (centre of symphysis) and both incisor apex (D‐A) and menton (D‐Me) and between cemento‐enamel junction and menton (CEJ‐Me); chin width at the level of the central incisor apex (CWA) and point D (CWD); and the angles of the anterior and posterior symphyseal slopes. The volume of the symphysis was measured using a specialized 3D imaging software. Group differences and associations between parameters were gauged through the three‐way ANOVA analysis.ResultsI‐C, I‐A, D‐A, D‐Me and CEJ‐Me were greater in the hyperdivergent group (p < .001). CWA and CWD were wider in the hypodivergent group (p = .003). Volume of the chin and inter‐slope angles were similar in all groups (p > .05). The anterior slope angle decreased with hyperdivegence (p < .005) in opposite pattern to the posterior slope angle (p < .005).ConclusionsShape differences in mandibular symphysis were observed between opposite divergence patterns. Mandibular incisors were longer with hyperdivergence and shorter with hypodivergence. However, chin volumes were similar across divergence groups. These findings underline the role of genetic and environmental factors that impact facial growth.
{"title":"Variation of chin morphology and mandibular incisor length in different facial divergence patterns: New insights from CBCT records","authors":"Joseph G. Ghafari, Eliane G. Ziade, Ammar Kassab, Maria Saadeh, Anthony T. Macari","doi":"10.1111/ocr.12856","DOIUrl":"https://doi.org/10.1111/ocr.12856","url":null,"abstract":"AimEvaluate constitutional differences in chin morphology and volume, and mandibular tooth size, between different facial divergence patterns.Materials and MethodsThe sample consisted of 284 pretreatment cone beam computed tomography (CBCT) images of growing and non‐growing patients who were stratified into 4 groups based on mandibular plane inclination to cranial base (SN) angle. Linear and angular measurements were made on the lateral CBCT images: mandibular lateral incisor crown (I‐C) total (I‐A) lengths, the distances between point D (centre of symphysis) and both incisor apex (D‐A) and menton (D‐Me) and between cemento‐enamel junction and menton (CEJ‐Me); chin width at the level of the central incisor apex (CWA) and point D (CWD); and the angles of the anterior and posterior symphyseal slopes. The volume of the symphysis was measured using a specialized 3D imaging software. Group differences and associations between parameters were gauged through the three‐way ANOVA analysis.ResultsI‐C, I‐A, D‐A, D‐Me and CEJ‐Me were greater in the hyperdivergent group (<jats:italic>p</jats:italic> < .001). CWA and CWD were wider in the hypodivergent group (<jats:italic>p</jats:italic> = .003). Volume of the chin and inter‐slope angles were similar in all groups (<jats:italic>p</jats:italic> > .05). The anterior slope angle decreased with hyperdivegence (<jats:italic>p</jats:italic> < .005) in opposite pattern to the posterior slope angle (<jats:italic>p</jats:italic> < .005).ConclusionsShape differences in mandibular symphysis were observed between opposite divergence patterns. Mandibular incisors were longer with hyperdivergence and shorter with hypodivergence. However, chin volumes were similar across divergence groups. These findings underline the role of genetic and environmental factors that impact facial growth.","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":"11 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142186023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}