Polymorphisms in GABRB3 and Oral Clefting in the Brazilian Population

dc.creatorFilezio, MR
dc.creatorBagordakis, E
dc.creatorde Aquino, SN
dc.creatorMessetti, ACP
dc.creatorMartelli, H
dc.creatorSwerts, MSO
dc.creatorGraner, E
dc.creatorColetta, RD
dc.creatorParanaiba, LMR
dc.date2013
dc.dateMAR
dc.date2014-07-30T18:09:52Z
dc.date2015-11-26T17:45:07Z
dc.date2014-07-30T18:09:52Z
dc.date2015-11-26T17:45:07Z
dc.date.accessioned2018-03-29T00:27:24Z
dc.date.available2018-03-29T00:27:24Z
dc.identifierDna And Cell Biology. Mary Ann Liebert Inc, v. 32, n. 3, n. 125, n. 129, 2013.
dc.identifier1044-5498
dc.identifierWOS:000315884800007
dc.identifier10.1089/dna.2012.1925
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/70727
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/70727
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1288083
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionThe aim of this study was to evaluate the influence of the gamma-aminobutyric acid receptor type A beta-3 subunit (GABRB3) polymorphisms in patients with nonsyndromic cleft lip and/or palate (NSCL/P). We carried out a structured case-control analysis of three GABRB3 polymorphisms (rs4477673, rs6576618, and rs981778) in 229 patients with nonsyndromic cleft lip with or without cleft palate (CL +/- P) and in 314 unaffected controls from Brazil. The polymorphisms were genotyped by the TaqMan 5'-exonuclease allelic discrimination assay, and each sample was independently typed for 40 biallelic short insertion/deletion markers (INDELs) to characterize the genomic ancestry. The genotype distributions of the three polymorphisms were as expected by the Hardy-Weinberg equilibrium test. After adjustment to ancestry contribution, the minor A allele of rs981778 was associated with NSCL/P, but significant results did not persist after Bonferroni correction for multiple tests. Similarly, the haplotype analysis revealed that the CCA haplotype (C allele of rs4477673, C allele of rs6576618, and A allele of rs981778) was correlated with NSCL/P, but this association did not remain statistically significant after Bonferroni correction. With a weak association, our data do not support the hypothesis that the GABRB3 variants are a cause of NSCL/P, but further studies are warranted.
dc.descriptiono TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.
dc.description32
dc.description3
dc.description125
dc.description129
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageen
dc.publisherMary Ann Liebert Inc
dc.publisherNew Rochelle
dc.publisherEUA
dc.relationDna And Cell Biology
dc.relationDNA Cell Biol.
dc.rightsembargo
dc.sourceWeb of Science
dc.subjectNonsyndromic Orofacial Clefts
dc.subjectSusceptibility Locus
dc.subjectCandidate Genes
dc.subjectChromosome 8q24
dc.subjectIrf6 Gene
dc.subjectPalate
dc.subjectLip
dc.subjectRisk
dc.subjectAssociation
dc.subjectVariants
dc.titlePolymorphisms in GABRB3 and Oral Clefting in the Brazilian Population
dc.typeArtículos de revistas


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