{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T12:20:48Z","timestamp":1782908448421,"version":"3.54.5"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T00:00:00Z","timestamp":1466467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the cysteine\u2010rich secretory protein <jats:styled-content style=\"fixed-case\">LCCL<\/jats:styled-content> domain containing 2 gene (<jats:italic><jats:styled-content style=\"fixed-case\">CRISPLD<\/jats:styled-content>2<\/jats:italic>) and in the jumonji, <jats:styled-content style=\"fixed-case\">AT<\/jats:styled-content>\u2010rich interaction domain 2 gene (<jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic>) were previously shown to influence non\u2010syndromic oral cleft susceptibility. Herein, we performed a case\u2212control study to examine the potential association of single\u2010nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) in <jats:italic><jats:styled-content style=\"fixed-case\">CRISPLD<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic> with non\u2010syndromic cleft lip and\/or palate (<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P) in the Brazilian population. Given the ethnicity\u2010dependent genetic predisposition to <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P, we performed a structured analysis taking into account the genomic ancestry variation of each individual.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in <jats:italic><jats:styled-content style=\"fixed-case\">CRISPLD<\/jats:styled-content>2<\/jats:italic> (rs1546124, rs8061351, rs2326398, and rs4783099) and four in <jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic> (rs915344, rs2299043, rs2237138, and rs2076056), that were previously reported to be associated with <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P, were genotyped in 785 Brazilian patients with <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P (549 with cleft lip with or without cleft palate\u2010<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content> \u00b1 P, and 236 with cleft palate only\u2010<jats:styled-content style=\"fixed-case\">NSCPO<\/jats:styled-content>) and 693 unaffected Brazilian controls. Genomic ancestry was assessed with a set of 40 biallelic short insertion\/deletion variants previously validated as ancestry informative markers of the Brazilian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After adjustment of ancestry variations, allelic analysis revealed marginal associations between the <jats:italic><jats:styled-content style=\"fixed-case\">CRISPLD<\/jats:styled-content>2<\/jats:italic> rs4783099 T allele and increased risk for <jats:styled-content style=\"fixed-case\">NSCPO<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>: 1.31, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>: 1.05\u20131.62, <jats:italic>P<\/jats:italic> = 0.01) and between <jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic> rs2237138 and decreased <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content> \u00b1 P risk (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>: 0.80, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>: 0.67\u20130.97, <jats:italic>P<\/jats:italic> = 0.02). Haplotype analysis indicated a lack of association between <jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic> haplotypes and non\u2010syndromic oral cleft risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results suggest that <jats:italic><jats:styled-content style=\"fixed-case\">CRISPLD<\/jats:styled-content>2<\/jats:italic> rs4783099 may represent a risk factor for <jats:styled-content style=\"fixed-case\">NSCPO<\/jats:styled-content> while <jats:italic><jats:styled-content style=\"fixed-case\">JARID<\/jats:styled-content>2<\/jats:italic> rs2237138 shows a protective effect against <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content> \u00b1 P in the Brazilian population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.12470","type":"journal-article","created":{"date-parts":[[2016,6,22]],"date-time":"2016-06-22T21:09:45Z","timestamp":1466629785000},"page":"232-239","source":"Crossref","is-referenced-by-count":20,"title":["Brazilian multicenter study of association between polymorphisms in <i><scp>CRISPLD<\/scp>2<\/i> and <i><scp>JARID<\/scp>2<\/i> and non\u2010syndromic oral clefts"],"prefix":"10.1111","volume":"46","author":[{"given":"Ana Camila","family":"Messetti","sequence":"first","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato Assis","family":"Machado","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine Ervolino","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herc\u00edlio","family":"Martelli\u2010J\u00fanior","sequence":"additional","affiliation":[{"name":"Stomatology Clinic Dental School State University of Montes Claros Montes Claros Minas Gerais Brazil"},{"name":"Center for Rehabilitation of Craniofacial Anomalies Dental School University of Jos\u00e9 Rosario Vellano Alfenas Minas Gerais Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia Regina","family":"de Almeida Reis","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helenara Salvati 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