{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:33:06Z","timestamp":1790760786665,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005922","name":"International Association for Dental Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005922","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%\u201380%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL\/P) and nonsyndromic cleft palate only (NSCPO). Although NSCL\/P and NSCPO are considered etiologically distinct, recent evidence suggests the presence of shared genetic risks. Thus, we investigated the genetic overlap between NSCL\/P and NSCPO using African genome\u2010wide association study (GWAS) data on NSOFCs. These data consist of 814 NSCL\/P, 205 NSCPO cases, and 2159 unrelated controls.\u202fWe generated common single\u2010nucleotide variants (SNVs) association summary statistics separately for each phenotype (NSCL\/P and NSCPO) under an additive genetic model. Subsequently, we employed the pleiotropic analysis under the composite null (PLACO) method to test for genetic overlap. Our analysis identified two loci with genome\u2010wide significance (rs181737795 [<jats:italic>p<\/jats:italic>\u2009=\u20092.58E\u221208] and rs2221169 [<jats:italic>p<\/jats:italic>\u2009=\u20094.5E\u221208]) and one locus with marginal significance (rs187523265 [<jats:italic>p<\/jats:italic>\u2009=\u20095.22E\u221208]). Using mouse transcriptomics data and information from genetic phenotype databases, we identified <jats:italic>MDN1, MAP3k7, KMT2A, ARCN1<\/jats:italic>, and <jats:italic>VADC2<\/jats:italic> as top candidate genes for the associated SNVs. These findings enhance our understanding of genetic variants associated with NSOFCs and identify potential candidate genes for further exploration.<\/jats:p>","DOI":"10.1002\/gepi.22564","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T12:35:04Z","timestamp":1713443704000},"page":"258-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Shared genetic risk between major orofacial cleft phenotypes in an African population"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9176-0221","authenticated-orcid":false,"given":"Azeez","family":"Alade","sequence":"first","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"},{"name":"Department of Epidemiology, College of Public Health University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabitha","family":"Peter","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Busch","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waheed","family":"Awotoye","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, College of Dentistry University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Anand","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences University of Delaware Newark Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oladayo","family":"Abimbola","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Aladenika","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojisola","family":"Olujitan","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Rysavy","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phuong Fawng","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thirona","family":"Naicker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Clinical Genetics University of KwaZulu\u2010Natal and Inkosi Albert Luthuli Central Hospital Durban South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Dundee Dundee UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lord J. J.","family":"Gowans","sequence":"additional","affiliation":[{"name":"Komfo Anokye Teaching Hospital and Kwame Nkrumah University of Science and Technology Kumasi Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mekonen A.","family":"Eshete","sequence":"additional","affiliation":[{"name":"Department of Surgery, Addis Ababa University School of Medicine Addis Ababa Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasiu L.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erliang","family":"Zeng","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Van Otterloo","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"},{"name":"Department of Periodontics, College of Dentistry University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"O'Rorke","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, College of Public Health University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adebowale","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"National Human Genomic Research Institute Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salil A.","family":"Lachke","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences University of Delaware Newark Delaware USA"},{"name":"Center for Bioinformatics and Computational Biology University of Delaware Newark Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Romitti","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, College of Public Health University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa Iowa City Iowa USA"},{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry University of Iowa Iowa City Iowa 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H.(2002).Palatogenesis: Closure of the secondary palate. InD. F.Wyszynski(Ed.) 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