{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T20:28:54Z","timestamp":1776371334938,"version":"3.51.2"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,10,15]],"date-time":"2012-10-15T00:00:00Z","timestamp":1350259200000},"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":[[2012,12]]},"abstract":"<jats:p>Non\u2010syndromic cleft lip with or without cleft palate (<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>) is a common birth defect with a complex etiology. Numerous genes and environmental factors, and their interactions, are thought to play a role in the susceptibility to<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>. A recent genome\u2010wide association study with several populations revealed markers in\/near transcription factor vmaf musculoaponeurtoic fibrosarcoma oncogene homolog B (<jats:italic><jats:styled-content style=\"fixed-case\">MAFB<\/jats:styled-content><\/jats:italic>) and<jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\u2010binding cassette sub\u2010family<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>member 4 (<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>4<\/jats:italic>) genes as new susceptibility loci for<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>. We hypothesized that these genes could also contribute to<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>in a<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>razilian population, and hence we evaluated if the associated single\u2010nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) in<jats:italic><jats:styled-content style=\"fixed-case\">MAFB<\/jats:styled-content><\/jats:italic>(rs13041247 and rs11696257) and<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>4<\/jats:italic>(rs560426 and rs481931) were associated with<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>in our case\u2013control data set. We genotyped 812 Caucasian individuals (400 cases and 412 controls) from Brazil. Allele frequencies were compared for cases and controls as well as for cleft subgroups and controls.<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>4<\/jats:italic>rs540426 showed strong associations with<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>, unilateral and right<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>, and bilateral<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>, whereas the<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>rs481931 showed borderline associations with<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>and bilateral<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>. No association was found for<jats:italic><jats:styled-content style=\"fixed-case\">MAFB<\/jats:styled-content><\/jats:italic>. Our results support a potential role for<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>4<\/jats:italic>in the etiology of<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>in individuals from Brazil.<\/jats:p>","DOI":"10.1111\/eos.12001","type":"journal-article","created":{"date-parts":[[2012,10,15]],"date-time":"2012-10-15T07:45:17Z","timestamp":1350287117000},"page":"553-557","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Further evidence of association of the<i><scp>ABCA<\/scp>4<\/i>gene with cleft lip\/palate"],"prefix":"10.1111","volume":"120","author":[{"given":"Clarissa","family":"Fontoura","sequence":"first","affiliation":[{"name":"Department of Cell and Molecular Biology Fluminense Federal University Niteroi RJ Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato M.","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Endodontics School of Dentistry University of Texas Health Science Center at Houston Houston TX USA"},{"name":"Pediatric Research Center Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose M.","family":"Granjeiro","sequence":"additional","affiliation":[{"name":"Department of Cell and Molecular Biology Fluminense Federal University Niteroi RJ Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariadne","family":"Letra","sequence":"additional","affiliation":[{"name":"Department of Endodontics School of Dentistry University of Texas Health Science Center at Houston Houston TX USA"},{"name":"Pediatric Research Center Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,10,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610402.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_4_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_5_1","doi-asserted-by":"publisher","DOI":"10.1597\/04-122R1.1"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910708601013"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.399"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm176"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn121"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0607956104"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.2009.0022"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20720"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp444"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33482"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510370004"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512440578"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23026"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23011"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33940"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.23394"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34170"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1597\/10-133"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017063"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.157801"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/19.1.149"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.12.8269"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn421"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80602-9"}],"container-title":["European Journal of Oral Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Feos.12001","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/eos.12001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T07:48:37Z","timestamp":1714463317000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/eos.12001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,15]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/eos.12001"],"URL":"https:\/\/doi.org\/10.1111\/eos.12001","archive":["Portico"],"relation":{},"ISSN":["0909-8836","1600-0722"],"issn-type":[{"value":"0909-8836","type":"print"},{"value":"1600-0722","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,15]]},"assertion":[{"value":"2012-09-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-10-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}