Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/82120
Type: Artigo de periódico
Title: MTHFR rs2274976 Polymorphism Is a Risk Marker for Nonsyndromic Cleft Lip with or without Cleft Palate in the Brazilian Population
Author: deAquino, SN
Hoshi, R
Bagordakis, E
Pucciarelli, MGR
Messetti, AC
Moreira, H
Bufalino, A
Borges, A
Rangel, AL
Brito, LA
Swerts, MSO
Martelli-Junior, H
Line, SR
Graner, E
Reis, SRA
Passos-Bueno, MR
Coletta, RD
Abstract: BackgroundPolymorphisms within the MTHFR (rs2274976) and MTHFD1 (rs2236225) genes were previously associated with maternal susceptibility for having an offspring with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Brazilian population. However, as the genotypes of the patients with NSCL/P were not evaluated, it is not clear whether the effects are associated with maternal or offspring genotypes. The aim of this study was to evaluate the association of rs2274976 and rs2236225 in the pathogenesis of NSCL/P. MethodsBy using the TaqMan 5-exonuclease allelic discrimination assay, the present study genotyped the rs2274976 and rs2236225 polymorphisms in 147 case-parent trios, 181 isolated samples of NSCL/P and 478 healthy controls of the Brazilian population. Transmission disequilibrium test and structured case-control analysis based on the individual ancestry proportions were performed. ResultsThe transmission disequilibrium test showed a significant overtransmission of the rs2274976 A allele (p=0.004), but no preferential parent-of-origin transmission was detected. The structured case-control analysis supported those findings, revealing that the minor A allele of rs2274976 was significantly more frequent in NSCL/P group compared with control group (p=0.001), yielding an odds ratio of 3.46 (95% confidence interval, 2.05-5.85). No association of rs2236225 polymorphism with NSCL/P was observed in both transmission disequilibrium test and case-control analysis. ConclusionThe results of the study revealed that the presence of the rs2274976 A allele is a risk marker for the development of NSCL/P in the Brazilian population. Birth Defects Research (Part A) 100:30-35, 2014. (c) 2013 Wiley Periodicals, Inc.
Subject: nonsyndromic cleft lip with or without cleft palate
folic acid
polymorphism
MTHFR
MTHFD1
susceptibility
Country: EUA
Editor: Wiley-blackwell
Rights: fechado
Identifier DOI: 10.1002/bdra.23199
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.