{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T20:05:10Z","timestamp":1766088310154,"version":"3.32.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01\u2010DE016148","R01\u2010DE032122","X01\u2010HG011437","R00\u2010DE024571","S21\u2010MD001830","U54\u2010GM133807"],"award-info":[{"award-number":["R01\u2010DE016148","R01\u2010DE032122","X01\u2010HG011437","R00\u2010DE024571","S21\u2010MD001830","U54\u2010GM133807"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Torus 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome\u2010wide association study (GWAS) to identify common variants associated with TP. We also performed gene\u2010based tests across the exome to investigate the role of low\u2010frequency coding variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our GWAS did not identify any genome\u2010wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with <jats:italic>p<\/jats:italic>\u2010values less than 5\u2009\u00d7\u200910<jats:sup>\u22126<\/jats:sup>. Candidate genes at these suggestive loci have been implicated in normal\u2010range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low\u2010frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12857","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T09:10:04Z","timestamp":1726650604000},"page":"159-165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genome scan reveals several loci associated with torus palatinus"],"prefix":"10.1111","volume":"28","author":[{"given":"Myoung Keun","family":"Lee","sequence":"first","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed M.","family":"El Sergani","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noah","family":"Herrick","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca M.","family":"Green","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmencita","family":"Padilla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine University of the Philippines  Manila Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen J.","family":"Bux\u00f3","sequence":"additional","affiliation":[{"name":"Dental and Craniofacial Genomics Core, School of Dental Medicine University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ross E.","family":"Long","sequence":"additional","affiliation":[{"name":"Lancaster Cleft Palate Clinic  Lancaster Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Consuelo","family":"Valencia\u2010Ramirez","sequence":"additional","affiliation":[{"name":"Clinica Noel  Medellin Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia P. Restrepo","family":"Mu\u00f1eton","sequence":"additional","affiliation":[{"name":"Clinica Noel  Medellin Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina M.","family":"Moreno Uribe","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, College of Dentistry University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasiu L.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, College of Medicine University of Lagos  Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology, and Medicine University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Human Genetics, School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Shaffer","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Human Genetics, School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9467-4556","authenticated-orcid":false,"given":"Seth M.","family":"Weinberg","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Human Genetics, School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1834-7819.1995.tb04820.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1127\/homo\/2020\/1316"},{"key":"e_1_2_10_4_1","first-page":"35","article-title":"Is it as dangerous as it looks?","volume":"12","author":"Che Ibrahim NH","year":"2017","journal-title":"Malays Fam Physician"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1051\/mbcb\/2018040"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2012.08.005"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021726"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330180404"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000153649"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<138::AID-AJMG3>3.0.CO;2-P"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2022.105514"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14183"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjac068"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/biology12020220"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2021.105221"},{"key":"e_1_2_10_16_1","doi-asserted-by":"crossref","unstructured":"GinartMT.Assessment of palatal rugae in a multiethnic population. 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