{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T04:02:15Z","timestamp":1773892935427,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,7,22]],"date-time":"2015-07-22T00:00:00Z","timestamp":1437523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The State of S\u00e3o Paulo Research Foundation- FAPESP, S\u00e3o Paulo, Brazil","award":["2011\/00891-7"],"award-info":[{"award-number":["2011\/00891-7"]}]},{"name":"The State of Bahia Research Foundation- FAPESB, Bahia, Brazil","award":["00007\/014"],"award-info":[{"award-number":["00007\/014"]}]},{"name":"The National Council for Scientific and Technological Development-CNPq, Bras\u00edlia, Brazil","award":["470606\/2011-8"],"award-info":[{"award-number":["470606\/2011-8"]}]},{"name":"The National Council for Scientific and Technological Development-CNPq, Bras\u00edlia, Brazil","award":["484292\/2013-7"],"award-info":[{"award-number":["484292\/2013-7"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Nonsyndromic cleft lip with or without cleft palate (NSCL\u2009\u00b1\u2009P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome\u2010wide association studies have identified several genomic susceptibility regions for NSCL\u2009\u00b1\u2009P, mostly in European\u2010derived or Asian populations. Genetic predisposition to NSCL\u2009\u00b1\u2009P is ethnicity\u2010dependent, and the genetic basis of susceptibility to NSCL\u2009\u00b1\u2009P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL\u2009\u00b1\u2009P susceptibility may be quite different. This study tested association of 8 single\u2010nucleotide polymorphisms (SNPs), previously identified by genome\u2010wide studies in other populations, with NSCL\u2009\u00b1\u2009P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL\u2009\u00b1\u2009P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion\/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL\u2009\u00b1\u2009P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25\u20132.01, <jats:italic>P<\/jats:italic>\u2009=\u20090.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21\u20132.07, <jats:italic>P<\/jats:italic>\u2009=\u20090.0002) were significantly associated with risk of NSCL\u2009\u00b1\u2009P. Polymorphisms located in <jats:italic>IRF6<\/jats:italic> (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL\u2009\u00b1\u2009P in the Brazilian population with high African ancestry. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37181","type":"journal-article","created":{"date-parts":[[2015,7,22]],"date-time":"2015-07-22T09:42:49Z","timestamp":1437558169000},"page":"2344-2349","source":"Crossref","is-referenced-by-count":42,"title":["Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry"],"prefix":"10.1002","volume":"167","author":[{"given":"Andrea","family":"do Rego Borges","sequence":"first","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamile","family":"S\u00e1","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuichi","family":"Hoshi","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camila Sane","family":"Viena","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena C.","family":"Mariano","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"de Castro Veiga","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena Peixoto","family":"Medrado","sequence":"additional","affiliation":[{"name":"Department of Basic Science Bahiana School of Medicine and Public Health Salvador Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato Assis","family":"Machado","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry State University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibele Nascimento","family":"de Aquino","sequence":"additional","affiliation":[{"name":"Stomatology Clinic, Dental School UNIMONTES \u2013 State University of Montes Claros Montes Claros MG Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Camila","family":"Messetti","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry State University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[{"name":"Human Medical Genetics and Genomics Program University of Colorado School of Medicine Aurora Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo D.","family":"Coletta","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis School of Dentistry State University of Campinas Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia R. 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