{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T09:41:49Z","timestamp":1707903709831},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,1,30]],"date-time":"2017-01-30T00:00:00Z","timestamp":1485734400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["1061078","11090105"],"award-info":[{"award-number":["1061078","11090105"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>Non\u2010syndromic cleft lip with or without cleft palate (<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (<jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic>)<jats:italic>,<\/jats:italic> msh homeobox 1 (<jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>), bone morphogenetic protein 4 (<jats:italic><jats:styled-content style=\"fixed-case\">BMP<\/jats:styled-content>4<\/jats:italic>), and transforming growth factor beta 3 (<jats:italic><jats:styled-content style=\"fixed-case\">TGFB<\/jats:styled-content>3<\/jats:italic>) in Chile. Here, we analyzed the haplotype\u2010based gene\u2013gene interaction for markers of these genes and <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P risk in the Chilean population. We genotyped 15 single nucleoptide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) in 152 Chilean patients and 164 controls. Linkage disequilibrium (<jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content>) blocks were determined using the Haploview software, and phase reconstruction was performed by the Phase program. Haplotype\u2010based interactions were evaluated using the multifactor dimensionality reduction (<jats:styled-content style=\"fixed-case\">MDR<\/jats:styled-content>) method. We detected two <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> blocks composed of two <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s from <jats:italic><jats:styled-content style=\"fixed-case\">BMP<\/jats:styled-content>4<\/jats:italic> (Block 1) and three <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s from <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> (Block 2). Although <jats:styled-content style=\"fixed-case\">MDR<\/jats:styled-content> showed no statistical significance for the global interaction model involving these blocks, we found four combinations conferring a statistically significantly increased <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P risk (Block 1\u2013Block 2): T\u2010T\/T\u2010G C\u2010G\u2010T\/G\u2010A\u2010T; T\u2010T\/T\u2010G C\u2010G\u2010C\/C\u2010G\u2010C; T\u2010T\/T\u2010G G\u2010A\u2010T\/G\u2010A\u2010T; and T\u2010T\/C\u2010G G\u2010A\u2010T\/G\u2010A\u2010T. These findings may reflect the presence of a genomic region containing potential causal variants interacting in the etiology of <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P and may contribute to disentangling the complex etiology of this birth defect.<\/jats:p>","DOI":"10.1111\/eos.12332","type":"journal-article","created":{"date-parts":[[2017,1,30]],"date-time":"2017-01-30T08:56:42Z","timestamp":1485766602000},"page":"102-109","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Haplotype\u2010based gene\u2013gene interaction of bone morphogenetic protein 4 and interferon regulatory factor 6 in the etiology of non\u2010syndromic cleft lip with or without cleft palate in a Chilean population"],"prefix":"10.1111","volume":"125","author":[{"given":"Rafael","family":"Blanco","sequence":"first","affiliation":[{"name":"Programa de Gen\u00e9tica Humana Instituto de Ciencias Biom\u00e9dica 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Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Suazo","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n en Ciencias Odontol\u00f3gicas Facultad de Odontolog\u00eda Universidad de Chile Santiago 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