Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/353848
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampMachado, Renato Assis-
dc.contributor.authorunicampMessetti, Ana Camila Pereira-
dc.contributor.authorunicampDella Coletta, Ricardo-
dc.typeArtigopt_BR
dc.titleAssociation between genes involved in craniofacial development and nonsyndromic cleft lip and/or palate in the brazilian populationpt_BR
dc.contributor.authorMachado, Renato Assis-
dc.contributor.authorMessetti, Ana Camila-
dc.contributor.authorAquino, Sibele Nascimento de-
dc.contributor.authorMartelli-Junior, Hercílio-
dc.contributor.authorSwerts, Mário Sergio Oliveira-
dc.contributor.authorReis, Silvia Regina de Almeida-
dc.contributor.authorMoreira, Helenara Salvati Bertolossi-
dc.contributor.authorPersuhn, Darlene Camati-
dc.contributor.authorColetta, Ricardo D.-
dc.subjectAnormalidades dentáriaspt_BR
dc.subjectFenda labialpt_BR
dc.subject.otherlanguageTooth abnormalitiespt_BR
dc.subject.otherlanguageCleft lippt_BR
dc.description.abstractTo determine the association of single-nucleotide polymorphisms (SNPs) in genes related to craniofacial development, which were previously identified as susceptibility signals for nonsyndromic oral clefts, in Brazilians with nonsyndromic cleft lip and/or palate (NSCL/P). The SNPs rs748044 (TNP1), rs1106514 (MSX1), rs28372960, rs15251 and rs2569062 (TCOF1), rs7829058 (FGFR1), rs1793949 (COL2A1), rs11653738 (WNT3), and rs242082 (TIMP3) were assessed in a family-based transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions. The SNPs were initially analyzed by TDT, and polymorphisms showing a trend toward excess transmission were subsequently studied in an independent case-control sample. The study sample consisted of 189 case-parent trios of nonsyndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of nonsyndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP, and 599 healthy controls. Association of alleles with NSCL/P pathogenesis. Preferential transmission of SNPs rs28372960 and rs7829058 in NSCL±P trios and rs11653738 in NSCP trios (P = .04) were observed, although the structured case-control analysis did not confirm these associations. The haplotype T-C-C formed by TCOF1 SNPs rs28372960, rs15251, and rs2569062 was more frequently transmitted from healthy parents to NSCL±P offspring, but the P value (P = .01) did not withstand Bonferroni correction for multiple tests. With the modest associations, our results do not support the hypothesis that TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3, and TIMP3 variants are risk factors for nonsyndromic oral clefts in the Brazilian population.pt_BR
dc.relation.ispartofCleft palate - craniofacial journalpt_BR
dc.relation.ispartofabbreviationCleft palate craniofac. J.pt_BR
dc.publisher.cityThousand Oaks, CApt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherSagept_BR
dc.date.issued2016-
dc.date.monthofcirculationSet.pt_BR
dc.language.isoengpt_BR
dc.description.volume53pt_BR
dc.description.issuenumber5pt_BR
dc.description.firstpage550pt_BR
dc.description.lastpage556pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1055-6656pt_BR
dc.identifier.eissn1545-1569pt_BR
dc.identifier.doi10.1597/15-107pt_BR
dc.identifier.urlhttps://journals.sagepub.com/doi/10.1597/15-107pt_BR
dc.description.sponsorshipCONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQpt_BR
dc.description.sponsorshipCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESpt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE MINAS GERAIS - FAPEMIGpt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPpt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.date.available2021-01-11T17:52:38Z-
dc.date.accessioned2021-01-11T17:52:38Z-
dc.description.provenanceSubmitted by Bruna Maria Campos da Cunha (bcampos@unicamp.br) on 2021-01-11T17:52:38Z No. of bitstreams: 0. Added 1 bitstream(s) on 2021-02-19T18:01:52Z : No. of bitstreams: 1 000388004800009.pdf: 215095 bytes, checksum: 5af6ce83559b9e76c43e407cac3b3a75 (MD5)en
dc.description.provenanceMade available in DSpace on 2021-01-11T17:52:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2016en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/353848-
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentDepartamento de Diagnóstico Oralpt_BR
dc.contributor.unidadeFaculdade de Odontologia de Piracicabapt_BR
dc.contributor.unidadeFaculdade de Odontologia de Piracicabapt_BR
dc.contributor.unidadeFaculdade de Odontologia de Piracicabapt_BR
dc.subject.keywordCOL2A1pt_BR
dc.subject.keywordCraniofacial developmentpt_BR
dc.subject.keywordFGFR1pt_BR
dc.subject.keywordMSX1pt_BR
dc.subject.keywordNonsyndromic cleft lip and/or palatept_BR
dc.subject.keywordTCOF1pt_BR
dc.subject.keywordTIMP3pt_BR
dc.subject.keywordTNP1pt_BR
dc.subject.keywordWNT3pt_BR
dc.identifier.source000388004800009pt_BR
dc.creator.orcid0000-0002-1697-3662pt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcid0000-0001-5285-3046pt_BR
dc.type.formArtigo originalpt_BR
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