{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:24:10Z","timestamp":1757705050019},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,8,24]],"date-time":"2012-08-24T00:00:00Z","timestamp":1345766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:p>Non\u2010syndromic cleft lip with or without cleft palate (<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v\u2010ski sarcoma viral oncogene homolog (<jats:italic><jats:styled-content style=\"fixed-case\">SKI<\/jats:styled-content><\/jats:italic>) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within<jats:italic><jats:styled-content style=\"fixed-case\">SKI<\/jats:styled-content><\/jats:italic>and<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non\u2010syndromic cleft lip only (<jats:styled-content style=\"fixed-case\">NSCLO<\/jats:styled-content>). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>patients and 366 controls). In addition, we analyzed the phenotypic subgroups<jats:styled-content style=\"fixed-case\">NSCLO<\/jats:styled-content>and non\u2010syndromic cleft of lip and palate (<jats:styled-content style=\"fixed-case\">NSCLP<\/jats:styled-content>). A trend towards association between rs2843159 and<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>was observed in the Mayan cohort (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.097), and we found a stronger association in the<jats:styled-content style=\"fixed-case\">NSCLP<\/jats:styled-content>subgroup (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.072) despite a limited sample size. To investigate whether other common variants within the<jats:italic><jats:styled-content style=\"fixed-case\">SKI<\/jats:styled-content><\/jats:italic>gene contribute to<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome\u2010wide association studies using set\u2010based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common<jats:italic><jats:styled-content style=\"fixed-case\">SKI<\/jats:styled-content><\/jats:italic>variants are susceptibility factors for<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/j.1600-0722.2012.00991.x","type":"journal-article","created":{"date-parts":[[2012,8,24]],"date-time":"2012-08-24T13:03:09Z","timestamp":1345813389000},"page":"373-377","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluating<i><scp>SKI<\/scp><\/i>as a candidate gene for non\u2010syndromic cleft lip with or without cleft palate"],"prefix":"10.1111","volume":"120","author":[{"given":"Elisabeth","family":"Mangold","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Neonatology University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael B. R.","family":"Le\u00f3n\u2010Cach\u00f3n","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin U.","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics, Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Herms","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics, Life and Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d3scar","family":"Chac\u00f3n\u2010Camacho","sequence":"additional","affiliation":[{"name":"Hospital Regional de Tuxtla Guti\u00e9rrez Tuxtla Guti\u00e9rrez Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roc\u00edo","family":"Ortiz\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"},{"name":"Centro de Investigaci\u00f3n y Desarrollo en Ciencias de la Salud Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Paredes\u2010Zenteno","sequence":"additional","affiliation":[{"name":"Hospital Regional de Tuxtla Guti\u00e9rrez Tuxtla Guti\u00e9rrez Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abelardo","family":"Arizpe\u2010Cant\u00fa","sequence":"additional","affiliation":[{"name":"Cl\u00ednica de Labio y Paladar (CLAYPA) Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio G.","family":"Mu\u00f1oz\u2010Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Esquipulas San Crist\u00f3bal de las Casas Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Nowak","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz\u2010Josef","family":"Kramer","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillo\u2010Facial Surgery University of G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas F.","family":"Wienker","sequence":"additional","affiliation":[{"name":"Institute for Medical Biometry, Informatics and Epidemiology 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 and Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Knapp","sequence":"additional","affiliation":[{"name":"Institute for Medical Biometry, Informatics and Epidemiology University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augusto","family":"Rojas\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"},{"name":"Centro de Investigaci\u00f3n y Desarrollo en Ciencias de la Salud Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/oso\/9780195139068.003.0012","volume-title":"Cleft Lip and Palate: From Origin to Treatment","author":"Mossey PA","year":"2002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2011.07.007"},{"key":"e_1_2_6_4_1","article-title":"Genome\u2010wide meta\u2010analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci","author":"Ludwig KU","journal-title":"Nat 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