{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:54:12Z","timestamp":1782521652577,"version":"3.54.5"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/02667\u20100"],"award-info":[{"award-number":["2016\/02667\u20100"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>The population of Brazil is highly admixed, with each individual showing variable levels of Amerindian, European and African ancestry, which may interfere in the genetic susceptibility of known risk loci to nonsyndromic cleft lip with or without cleft palate (NSCL\u00b1P). Here, we investigated 5 reported genome\u2010wide loci for NSCL\u00b1P in an ancestry\u2010structured case\u2010control study containing 1697 Brazilian participants (831 NSCL\u00b1P and 866 healthy controls). SNPs rs7552 in 2q24.2, rs8049367 in 16p13.3, rs1880646, rs7406226, rs9891446 in 17p13, rs1588366 in 17q23.2 and rs73039426 in 19q13.11 were genotyped using TaqMan allelic discrimination assays and genomic ancestry was estimated using a panel of 40 biallelic short insertion\/deletion polymorphic markers informative of the Brazilian population. Logistic regression analysis of the single\u2010markers revealed rs7552 in 2p24.2 as a susceptibility risk marker for NSCL\u00b1P, yielding an odds ratio (OR) of 1.71 (95% confidence interval (CI): 1.31\u20102.24, <jats:italic>P<\/jats:italic> = 9 \u00d7 10<jats:sup>\u22126<\/jats:sup>) in the homozygous state. Several SNP\u2010SNP interactions containing rs7552 reached significance after adjustment for multiple tests (both Bonferroni assumption and 1000 permutation test), with the most significant interaction involving the 3\u2010loci among rs7552, rs9891446 and rs73039426 (<jats:italic>P<\/jats:italic> = 6.1 \u00d7 10<jats:sup>\u22129<\/jats:sup> and <jats:italic>p<\/jats:italic><jats:sub>1000 permutation<\/jats:sub> = 0.001). Our study is the first to support the association of rs7552 in 2p24.2 with NSCL\u00b1P in the highly admixed Brazilian population.<\/jats:p>","DOI":"10.1111\/cge.13246","type":"journal-article","created":{"date-parts":[[2018,2,28]],"date-time":"2018-02-28T11:58:27Z","timestamp":1519819107000},"page":"1199-1204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1697-3662","authenticated-orcid":false,"given":"R.A.","family":"Machado","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":"E.N.","family":"Nogueira","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":"H.","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":"S.R.","family":"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":"D.C.","family":"Persuhn","sequence":"additional","affiliation":[{"name":"Molecular Biology Department Federal University of Para\u00edba  Jo\u00e3o Pessoa Para\u00edba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.D.","family":"Coletta","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis, School of Dentistry University of Campinas  Piracicaba S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1806-83242007000400006"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1806-83242009000100007"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.9503.1"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35634"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23540"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01627.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35830"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-53"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23204"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23365"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37181"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7414"},{"issue":"13","key":"e_1_2_6_16_1","first-page":"2862","article-title":"A multi\u2010ethnic genome\u2010wide association study identifies novel loci for non\u2010syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13","volume":"25","author":"Leslie EJ","year":"2016","journal-title":"Hum Mol 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