{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T05:41:45Z","timestamp":1761716505740,"version":"3.37.3"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T00:00:00Z","timestamp":1510617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["FOR 423","MA 2546\/3\u20101","KR 1912\/7\u20101","NO 246\/6\u20101","WI 1555\/5\u20101","LU\u20101944\/3\u20101"],"award-info":[{"award-number":["FOR 423","MA 2546\/3\u20101","KR 1912\/7\u20101","NO 246\/6\u20101","WI 1555\/5\u20101","LU\u20101944\/3\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008131","name":"University of Bonn","doi-asserted-by":"publisher","award":["O\u2010149.0097"],"award-info":[{"award-number":["O\u2010149.0097"]}],"id":[{"id":"10.13039\/501100008131","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>Nonsyndromic cleft lip with or without cleft palate (nsCL\/P) is one of the most common congenital malformation worldwide, and its etiology involves both genetic and environmental factors. Recent genome\u2010wide and targeted genetic studies of nsCL\/P have identified numerous genetic risk loci, under the hypothesis of a multiplicative mode of inheritance. The present study investigated whether novel nsCL\/P risk loci could be identified by analyzing dominant\/recessive genetic effects in single nucleotide polymorphism (SNP) data from genome\u2010wide association studies. For this purpose, a genome\u2010wide investigation of dominant\/recessive common SNP effects was performed in our previously published meta\u2010analysis data set. Twenty\u2010four loci were identified as candidate regions. In a subsequent association analysis in an independent study cohort of 224 nsCL\/P patients and 986 controls of European descent, none of the loci could be replicated. Therefore, our strategy of identifying novel loci by applying different genetic models did not yield any novel findings, suggesting that recessive\/dominant common variation only make a limited contribution to nsCL\/P in Europeans. However, we cannot rule out that such effects are present at some of the loci that have previously been identified, or are present in different populations.<\/jats:p>","DOI":"10.1002\/bdr2.1144","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T06:22:36Z","timestamp":1510640556000},"page":"336-341","source":"Crossref","is-referenced-by-count":6,"title":["Investigation of dominant and recessive inheritance models in genome\u2010wide association studies data of nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1002","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5716-786X","authenticated-orcid":false,"given":"Anne C.","family":"B\u00f6hmer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life &amp; Brain Center, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"G\u00f6lz","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Kreusch","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Head and Neck Centre Asklepios Klinik Nord Heidberg Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz\u2010Josef","family":"Kramer","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery University of G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"P\u00f6tzsch","sequence":"additional","affiliation":[{"name":"Institute of Experimental Hematology and Transfusion Medicine University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus M.","family":"N\u00f6then","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life &amp; Brain Center, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"J\u00e4ger","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mangold","sequence":"additional","affiliation":[{"name":"Department of Genomics Life &amp; Brain Center, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Knapp","sequence":"additional","affiliation":[{"name":"Department of Medical Biometry, Informatics and Epidemiology University Hospital Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8541-2519","authenticated-orcid":false,"given":"Kerstin U.","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life &amp; Brain Center, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1283-6"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/518944"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2010.182"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.004"},{"issue":"10","key":"e_1_2_7_8_1","first-page":"1261","article-title":"Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: Genome\u2010wide survey of runs of homozygosity","volume":"70","author":"Ghani M.","year":"2013","journal-title":"JAMA Neurology"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.3759"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0710021104"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1754-7"},{"issue":"13","key":"e_1_2_7_13_1","first-page":"2862","article-title":"A multi\u2010ethnic genome\u2010wide association study identifies novel loci for non\u2010syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13","volume":"25","author":"Leslie E. 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