{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:33:52Z","timestamp":1777602832992,"version":"3.51.4"},"reference-count":51,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"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"],"award-info":[{"award-number":["1061078"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["11090105"],"award-info":[{"award-number":["11090105"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>The functional variant within the 5,10\u2010methylenetetrahydrofolate reductase (<jats:italic><jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content><\/jats:italic>) gene c.677C&gt;T, producing alterations in folate metabolism, has been associated with the risk of non\u2010syndromic cleft lip with or without cleft palate (<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P). We assessed this association in a Chilean population using a combined analysis of case\u2013control and case\u2013parent trio samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>Samples of 165 cases and 291 controls and 121 case\u2013parent trios (sharing the cases) were genotyped. Odds ratio (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>) was estimated for case\u2013control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> was also computed. Maternal genotype effect was additionally evaluated based on a log\u2010linear method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Borderline but not significant <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> (1.28; <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 0.97\u20131.69) was observed for risk allele (T) in the case\u2013control sample. However, triad sample showed a significant association (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> 1.56: <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 1.09\u20132.25) which was confirmed by the combined <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> (1.37; <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 1.11\u20131.71). Maternal genotype has been also associated with the phenotype (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.002).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for <jats:italic><jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content><\/jats:italic> c.677C&gt;T variant are strongly associated with <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P in this Chilean population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12533","type":"journal-article","created":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T15:38:54Z","timestamp":1467905934000},"page":"703-708","source":"Crossref","is-referenced-by-count":12,"title":["<i><scp>MTHFR<\/scp><\/i> c.677C&gt;T is a risk factor for non\u2010syndromic cleft lip with or without cleft palate in Chile"],"prefix":"10.1111","volume":"22","author":[{"given":"C","family":"Ram\u00edrez\u2010Chau","sequence":"first","affiliation":[{"name":"Instituto de Investigaci\u00f3n en Ciencias Odontol\u00f3gicas Facultad de Odontolog\u00eda Universidad de Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Blanco","sequence":"additional","affiliation":[{"name":"Programa de Gen\u00e9tica Humana Instituto de Ciencias Biom\u00e9dicas Facultad de Medicina Universidad de Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Colombo","sequence":"additional","affiliation":[{"name":"Programa de Anatom\u00eda y Biolog\u00eda del Desarrollo Instituto de Ciencias Biom\u00e9dicas Facultad de Medicina Universidad de Chile Santiago Chile"},{"name":"Servicio de Anatom\u00eda Patol\u00f3gica Hospital Cl\u00ednico de la Universidad de Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Pardo","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica Hospital Cl\u00ednico Universidad de Chile Santiago Chile"},{"name":"Unidad de Neonatolog\u00eda Hospital Cl\u00ednico Universidad de Chile Santiago Chile"},{"name":"Unidad de Gen\u00e9tica Hospital Dr. S\u00f3tero del R\u00edo Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","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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