Orthodontics & Craniofacial Research最新文献

{"title":"Practices and Perception of Paediatric Obstructive Sleep Apnea Among Orthodontists and Paediatric Dentists in Brazil: A Mixed-Methods Study.","authors":"Nathalia Carolina Fernandes Fagundes, Renata Travassos da Rosa Moreira Bastos, Arnaldo Perez, Carlos Flores-Mir, David Normando","doi":"10.1111/ocr.12866","DOIUrl":"https://doi.org/10.1111/ocr.12866","url":null,"abstract":"<p><strong>Objectives: </strong>To explore orthodontists' (OTs) and paediatric dentists' (PDs) practices and perceptions regarding the screening and management of paediatric obstructive sleep apnea (OSA).</p><p><strong>Methods: </strong>This explanatory sequential mixed methods design included OTs and PDs with active clinical practice in Brazil and encompassed a quantitative phase followed by a qualitative phase. In the quantitative phase, a survey assessing OSA screening and management practices was administered to OTs and PDs practicing in Brazil. Information-rich OTs and PDs were interviewed in the qualitative phase. Descriptive statistics and the chi-square test were used to analyse the survey data, while inductive content analysis was applied to the interview data. The results from both phases were integrated and reported narratively.</p><p><strong>Results: </strong>Three hundred eighty-one OTs and PDs completed the survey, and ten of them were interviewed. Nearly half of OTs and PDs administered sleep questionnaires and demonstrated some knowledge about paediatric OSA signs and symptoms. PDs and OTs primarily offered rapid maxillary expansion and functional mandibular advancement for managing selected children with OSA, with OTs being more frequently involved in this task than PDs. OTs and PDs identified several barriers and expressed the need for support regarding access to reliable screening tools and interprofessional care.</p><p><strong>Conclusion: </strong>Brazilian OTs and PDs were aware of the main signs and symptoms of paediatric OSA and were somewhat involved in offering oral appliance management options. To further define the role of these professionals, increasing support for dental professionals in OSA management and updating existing clinical guidelines is warranted.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471719","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}

{"title":"In Vitro Comparison of Direct Attachment Shape and Size on the Orthodontic Forces and Moments Generated by Thermoplastic Aligners During Expansion.","authors":"Megann Lear, Amin Akbari, Olivia Robertson, Janine Magura, Alexandra Bojrab, George Eckert, Jie Chen, Richard Scott Conley, Hakan Turkkahraman","doi":"10.1111/ocr.12865","DOIUrl":"https://doi.org/10.1111/ocr.12865","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effects of varying direct attachment shape and size on the forces and moments generated by thermoplastic aligners during simulated expansion.</p><p><strong>Materials and methods: </strong>An in vitro orthodontic force tester (OFT) was used to measure the forces and moments from a typodont where the buccal teeth were translated lingually 0.2 mm to simulate expansion. Hemi-ellipsoid and rectangular attachments with either 0.5 or 1.0 mm thickness were added on upper right first premolar (UR4), second premolar (UR5) and first molar (UR6). Analysis of variance (ANOVA) was used to determine two-way interactions among the factors on the outcomes.</p><p><strong>Results: </strong>The interactions between group and tooth were significant for all outcomes (p < 0.001). The greatest buccal forces (Fy) were observed with 1 mm rectangular attachment on the UR4 (0.78 ± 0.29 N), with 1 mm hemi-ellipsoid attachment on UR5 (0.28 ± 0.21 N) and with 0.5 mm rectangular attachment on UR6 (1.71 ± 0.18 N). The greatest buccolingual moments (Mx) were obtained with 1 mm rectangular attachment on UR4 (5.61 ± 1.43 Nmm), without any attachments on UR5 (3.33 ± 1.73 Nmm) and with 1 mm hemi-ellipsoid attachment on UR6 (4.18 ± 4.31).</p><p><strong>Conclusion: </strong>Direct attachment shape and size had a significant effect on the orthodontic forces and moments generated by thermoplastic aligners during simulated expansion. Although loads varied significantly by tooth morphology and its location in the arch, best forces and moments for expansion were obtained with 1 mm rectangular attachments on UR4s, 1 mm hemi-ellipsoid attachments on UR5s and 0.5 mm rectangular attachments on UR6s.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392273","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}

{"title":"Patient's Perspective on Miniscrews During Orthodontic Treatment-A Systematic Review With Meta-Analysis.","authors":"Francisco Vale, Raquel Travassos, Isabela Couto, Madalena Ribeiro, Filipa Marques, Francisco Caramelo, Carlos Miguel Marto, Gianrico Spagnuolo, Anabela Baptista Paula, Catarina Nunes, Inês Francisco","doi":"10.1111/ocr.12864","DOIUrl":"https://doi.org/10.1111/ocr.12864","url":null,"abstract":"<p><p>During orthodontic treatment, undesirable reciprocal forces are generated during tooth movement, which explains the use of anchorage strategies to minimise their harmful effects through intra and/or extraoral appliances. Miniscrews are intraoral devices used for temporary skeletal anchorage. Miniscrews are small-sized intraoral devices used for temporary skeletal anchorage and are easy to place and remove. However, some studies refer to adverse effects such as inflammation, pain, and discomfort. This systematic review aims to synthesise the available evidence on the use of miniscrews during orthodontic treatment from the patient's perspective. The literature search was conducted using various databases MedLine through PubMed, Cochrane Library, Web of Science Core Collection, and EMBASE. A search was also carried out in the grey literature. The search terms used were \"Orthodontic Anchorage Procedures,\" \"mini-implant,\" \"Mini Dental Implant,\" \"Miniscrew,\" and \"microimplant.\" Cochrane risk of bias tools was used to assess the quality of included studies. Patients tend to overestimate the pain inherent in this procedure. The insertion of micro implants is more accepted than the tooth extraction procedure, with less postoperative pain reported. The location, surgical technique, and type of anaesthesia used in the placement of miniscrews influence levels of discomfort. Additionally, the execution of a good surgical technique and the clinician's communication skills are factors that influence patient satisfaction and positive perception. The most frequent outcome reported is pain and discomfort, which varies depending on its location (less with mini interradicular screws than with extra-alveolar screws). Most patients are satisfied or very satisfied with this application.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392274","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}

{"title":"Predicting the Risk of Maxillary Canine Impaction Based on Maxillary Measurements Using Supervised Machine Learning.","authors":"Cristiano Miranda de Araujo, Pedro Felipe de Jesus Freitas, Aline Xavier Ferraz, Patricia Kern Di Scala Andreis, Michelle Nascimento Meger, Flares Baratto-Filho, Cesar Augusto Rodenbusch Poletto, Erika Calvano Küchler, Elisa Souza Camargo, Angela Graciela Deliga Schroder","doi":"10.1111/ocr.12863","DOIUrl":"https://doi.org/10.1111/ocr.12863","url":null,"abstract":"<p><strong>Objectives: </strong>To predict palatally impacted maxillary canines based on maxilla measurements through supervised machine learning techniques.</p><p><strong>Materials and methods: </strong>The maxilla images from 138 patients were analysed to investigate intermolar width, interpremolar width, interpterygoid width, maxillary length, maxillary width, nasal cavity width and nostril width, obtained through cone beam computed tomography scans. The predictive models were built using the following machine learning algorithms: Adaboost Classifier, Decision Tree, Gradient Boosting Classifier, K-Nearest Neighbours (KNN), Logistic Regression, Multilayer Perceptron Classifier (MLP), Random Forest Classifier and Support Vector Machine (SVM). A 5-fold cross-validation approach was employed to validate each model. Metrics such as area under the curve (AUC), accuracy, recall, precision and F1 Score were calculated for each model, and ROC curves were constructed.</p><p><strong>Results: </strong>The predictive model included four variables (two dental and two skeletal measurements). The interpterygoid width and nostril width showed the largest effect sizes. The Gradient Boosting Classifier algorithm exhibited the best metrics, with AUC values ranging from 0.91 [CI95% = 0.74-0.98] for test data to 0.89 [CI95% = 0.86-0.94] for crossvalidation. The nostril width variable demonstrated the highest importance across all tested algorithms.</p><p><strong>Conclusion: </strong>The use of maxillary measurements, through supervised machine learning techniques, is a promising method for predicting palatally impacted maxillary canines. Among the models evaluated, both the Gradient Boosting Classifier and the Random Forest Classifier demonstrated the best performance metrics, with accuracy and AUC values exceeding 0.8, indicating strong predictive capability.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372483","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}

{"title":"Piezo1 Promotes Osteogenesis Through CaMKII Signalling in a Rat Maxillary Expansion Model.","authors":"Zhengquan He, Yugui Du, Chuhan Peng, Bowen Xu, Jiayue Tang, Runxuan Liu, Kai Yang","doi":"10.1111/ocr.12862","DOIUrl":"https://doi.org/10.1111/ocr.12862","url":null,"abstract":"<p><strong>Objectives: </strong>Rapid maxillary expansion (RME) is a widely used technique to treat maxillary transverse deficiency. Piezo1 is a cation channel that is activated by mechanical force and regulates bone formation. This study aims to elucidate the role of Piezo1 in bone remodelling during the RME process.</p><p><strong>Materials and methods: </strong>In this study, the periosteal-derived stem cells (PDSCs) were cultured and stretched by the Flexcell system. The effects of Piezo1 on osteogenesis were assessed via RNA sequencing, real-time quantitative PCR, and western blot analyses. Moreover, for in vivo analyses, the rat RME model was established. The function of Piezo1 in mid-palatal suture bone remodelling was evaluated using micro-CT, haematoxylin-eosin (HE) staining, and immunohistochemistry analyses.</p><p><strong>Results: </strong>It was revealed that under tension force, the osteogenic factors (Runt-related transcription factor 2, Osterix, and Alkaline Phosphatase) and Ca²⁺/calmodulin -dependent protein kinase (CaMKII) were significantly enhanced in PDSCs over time. Furthermore, these were also upregulated in the RME model with the expansion of the mid-palatal suture. However, Piezo1 inhibition by Grammostola spatulata mechanotoxin 4 downregulated the levels of these factors in the RME model.</p><p><strong>Conclusions: </strong>This study indicated that Piezo1 is associated with the osteogenesis of PDSCs and bone remodelling in the RME process. CaMKII might also participate in this process.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351422","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}

{"title":"Surgical and Camouflage Orthodontic Treatment of Anterior Open Bite: Comparison of Profile Attractiveness.","authors":"C Q Nogueira, P Cotrin, D S Freitas, J E Prado de Souza, F P Valarelli, K M S Freitas, M R de Freitas","doi":"10.1111/ocr.12861","DOIUrl":"https://doi.org/10.1111/ocr.12861","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the profile's attractiveness between the different protocols for treating the anterior open bite.</p><p><strong>Methods: </strong>The sample comprised 39 patients with anterior open bite treated with or without extractions, divided into two groups: The surgical group (G1) comprised 21 subjects (10 males, 11 females) with a mean initial age of 21.86 years (SD = 5.09), treated with fixed orthodontic appliance followed by orthognathic surgery, for a total mean period of 2.53 years (SD = 0.61). The mean overbite was -5.01 mm (SD = 2.50); The camouflaged group (G2) comprised 18 subjects (9 males, 9 females), with a mean initial age of 20.47 years (SD = 4.19), treated only with fixed orthodontic appliance, for a total mean period of 2.56 years (SD = 0.94). The mean overbite was -4.28 mm (SD = 1.15). Lateral photographs from pretreatment and posttreatment were used. These photographs were evaluated by 46 laypeople and 67 dentists, who rated the attractiveness of each profile from 0 (most unattractive profile) to 10 (most attractive profile). Intergroup comparisons were performed with independent t-tests.</p><p><strong>Results: </strong>Both groups presented improvement in the profile attractiveness with treatment (p < 0.001). Before treatment, the profile of the surgical group was significantly less attractive than the profile of the camouflaged group (p < 0.001). The surgical presented a more attractive profile at the final stage than the camouflaged group (p < 0.001). The surgical group showed a greater improvement in profile attractiveness with treatment than the camouflaged group (p < 0.001).</p><p><strong>Conclusion: </strong>In the final stage, the surgical presented a more attractive and greater improvement in profile attractiveness than the camouflaged group. The laypeople and dentists judged similarly the initial profile attractiveness.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351423","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}

{"title":"Dual role of Sfrp4 in bone remodelling during orthodontic tooth movement.","authors":"Qing Wang, Xuan Wang, Yanzheng Chen, Jinsong Pan","doi":"10.1111/ocr.12858","DOIUrl":"https://doi.org/10.1111/ocr.12858","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study was to determine changes in gene expression by establishing an orthodontic tooth movement (OTM) rat model with appropriate and excessive orthodontic force.</p><p><strong>Materials and methods: </strong>Using a closed coil nickel-titanium spring, the OTM was carried out to apply a mesial force of 50 or 100 g to the maxillary first molars. Micro-CT, histological and immunohistochemical staining were used to evaluate the bone formation at the tension site and the bone resorption and bone formation at pressure site. Then RNA sequencing and bioinformatic analysis were performed.</p><p><strong>Results: </strong>According to the results of the Mirco-CT scan of OTM rat models, both the 50 g group and the 100 g group showed variable degrees of reduction in alveolar bone density on the tension and pressure sides. The results of histological and immunohistochemical staining demonstrated that the periodontal tissue and osteogenic ability of the 50 g group were restored at the 14 days, while the 100 g group caused severe periodontal tissue damage. The GO and KEGG analysis results, as well as the number of differentially expressed genes (DEGs), varied depending on the loading time and value of appliance, according to the results of the RNA sequencing. And the immunohistochemical staining results showed that Sfrp4 functioned by efficiently influencing both bone formation and bone absorption.</p><p><strong>Conclusions: </strong>Appropriate orthodontic force value could cause appropriate movement of teeth in rats without adverse periodontal damage. Simultaneously, distinct gene expression patterns were observed at various force levels and time intervals.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351421","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}

{"title":"Smartphone-based scans of palate models of newborns with cleft lip and palate: Outlooks for three-dimensional image capturing and machine learning plate tool.","authors":"José Wittor de Macêdo Santos, Andreas Albert Mueller, Benito K Benitez, Yoriko Lill, Prasad Nalabothu, Francisco Wilker Mustafa Gomes Muniz","doi":"10.1111/ocr.12859","DOIUrl":"https://doi.org/10.1111/ocr.12859","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the performance of smartphone scanning applications (apps) in acquiring 3D meshes of cleft palate models. Secondarily, to validate a machine learning (ML) tool for computing automated presurgical plate (PSP).</p><p><strong>Materials and methods: </strong>We conducted a comparative analysis of two apps on 15 cleft palate models: five unilateral cleft lip and palate (UCLP), five bilateral cleft lip and palate (BCLP) and five isolated cleft palate (ICP). The scans were performed with and without a mirror to simulate intraoral acquisition. The 3D reconstructions were compared to control reconstructions acquired using a professional intraoral scanner using open-source software.</p><p><strong>Results: </strong>Thirty 3D scans were acquired by each app, totalling 60 scans. The main findings were in the UCLP sample, where the KIRI scans without a mirror (0.22 ± 0.03 mm) had a good performance with a deviation from the ground truth comparable to the control group (0.14 ± 0.13 mm) (p = .653). Scaniverse scans with a mirror showed the lowest accuracy of all the samples. The ML tool was able to predict the landmarks and automatically generate the plates, except in ICP models. KIRI scans' plates showed better performance with (0.22 ± 0.06 mm) and without mirror (0.18 ± 0.05 mm), being comparable with controls (0.16 ± 0.08 mm) (p = .954 and p = .439, respectively).</p><p><strong>Conclusions: </strong>KIRI Engine performed better in scanning UCLP models without a mirror. The ML tool showed a high capability for morphology recognition and automated PSP generation.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292820","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}

{"title":"Wearing the mandibular advancement orthosis and dental movements: Contribution of a digital monitoring protocol.","authors":"M Gay, M Ducret, R Richert, G Buiret","doi":"10.1111/ocr.12860","DOIUrl":"https://doi.org/10.1111/ocr.12860","url":null,"abstract":"<p><strong>Objectives: </strong>Oral appliance (OA) has been increasingly used for the treatment of obstructive sleep apnoea hypopnea syndrome (OSAHS). OAs work by propelling the mandible, increasing the upper airway calibre and reducing collapsibility. While they have shown efficacy in reducing OSAHS, long-term use can lead to adverse effects, such as dental displacement. The present study focuses on the impact on dental displacements of the NARVAL® computer-aided design and manufacturing OA from the ResMed laboratory.</p><p><strong>Materials and methods: </strong>The study included 39 patients aged 18 or older who were treated for OSAHS using OAs initiated between 2019 and 2021 and had initial digital dental impressions. A new digital print was taken for each patient using the TRIOS 4 Wireless intra-oral scanner from 3SHAPE. Dental displacement was measured using a 3D system's GEOMAGIC design X 3D reverse engineering software. The study analysed different blocks of teeth in both the maxillary and mandibular arches. Statistical analysis was conducted to determine the significance of dental displacements.</p><p><strong>Results: </strong>Patients had been wearing the OA for an average of 2.5 years. The study found dental displacements in both the maxillary and mandibular arches. However, these displacements were not statistically significant. Qualitative analysis revealed palatoversion and vestibuloversion, while quantitative analysis showed minor dental displacements.</p><p><strong>Conclusion: </strong>This study on patients wearing the NARVAL® OA for an average of 2.5 years found dental displacements in both the maxillary and mandibular arches. However, these displacements were not statistically significant. The results suggest that the OA, designed using a complete digital workflow, did not significantly impact dental positions. To confirm the impact, further investigations with larger sample sizes, an exclusively digital protocol and a control group are required.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142292821","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}

{"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}