dc.creator | Filezio, MR | |
dc.creator | Bagordakis, E | |
dc.creator | de Aquino, SN | |
dc.creator | Messetti, ACP | |
dc.creator | Martelli, H | |
dc.creator | Swerts, MSO | |
dc.creator | Graner, E | |
dc.creator | Coletta, RD | |
dc.creator | Paranaiba, LMR | |
dc.date | 2013 | |
dc.date | MAR | |
dc.date | 2014-07-30T18:09:52Z | |
dc.date | 2015-11-26T17:45:07Z | |
dc.date | 2014-07-30T18:09:52Z | |
dc.date | 2015-11-26T17:45:07Z | |
dc.date.accessioned | 2018-03-29T00:27:24Z | |
dc.date.available | 2018-03-29T00:27:24Z | |
dc.identifier | Dna And Cell Biology. Mary Ann Liebert Inc, v. 32, n. 3, n. 125, n. 129, 2013. | |
dc.identifier | 1044-5498 | |
dc.identifier | WOS:000315884800007 | |
dc.identifier | 10.1089/dna.2012.1925 | |
dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/70727 | |
dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/70727 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1288083 | |
dc.description | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.description | The 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.description | o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015. | |
dc.description | 32 | |
dc.description | 3 | |
dc.description | 125 | |
dc.description | 129 | |
dc.description | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.description | Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG) | |
dc.description | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.language | en | |
dc.publisher | Mary Ann Liebert Inc | |
dc.publisher | New Rochelle | |
dc.publisher | EUA | |
dc.relation | Dna And Cell Biology | |
dc.relation | DNA Cell Biol. | |
dc.rights | embargo | |
dc.source | Web of Science | |
dc.subject | Nonsyndromic Orofacial Clefts | |
dc.subject | Susceptibility Locus | |
dc.subject | Candidate Genes | |
dc.subject | Chromosome 8q24 | |
dc.subject | Irf6 Gene | |
dc.subject | Palate | |
dc.subject | Lip | |
dc.subject | Risk | |
dc.subject | Association | |
dc.subject | Variants | |
dc.title | Polymorphisms in GABRB3 and Oral Clefting in the Brazilian Population | |
dc.type | Artículos de revistas | |