Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palate

dc.contributor.authorWaltrick-Zambuzzi, Márcia
dc.contributor.authorTannure, Patricia Nivoloni
dc.contributor.authorVieira, Thays Cristinedos Santos
dc.contributor.authorAntunes, Leonardo Santos
dc.contributor.authorRomano, Fábio Lourenço
dc.contributor.authorZambuzzi, Willian Fernando [UNESP]
dc.contributor.authorGranjeiro, José Mauro
dc.contributor.authorKüchler, Erika Calvano
dc.contributor.institutionUniversidade Veiga de Almeida
dc.contributor.institutionUniversidade Federal Fluminense (UFF)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionINMETRO – Instituto Nacional de Metrologia Qualidade e Tecnologia
dc.date.accessioned2018-12-11T16:40:38Z
dc.date.available2018-12-11T16:40:38Z
dc.date.issued2015-11-01
dc.description.abstractThe aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology.en
dc.description.affiliationDental School Universidade Veiga de Almeida
dc.description.affiliationClinical Research Unit Antonio Pedro University Hospital UFF - Universidade Federal Fluminense
dc.description.affiliationDepartment of Pediatric Clinic School of Dentistry of Ribeirão Preto USP - University of São Paulo
dc.description.affiliationDepartament of Chemistry and Biochemistry UNESP Universidade Estadual Paulista
dc.description.affiliationINMETRO – Instituto Nacional de Metrologia Qualidade e Tecnologia
dc.description.affiliationUnespDepartament of Chemistry and Biochemistry UNESP Universidade Estadual Paulista
dc.format.extent561-565
dc.identifierhttp://dx.doi.org/10.1590/0103-6440201300394
dc.identifier.citationBrazilian Dental Journal, v. 26, n. 6, p. 561-565, 2015.
dc.identifier.doi10.1590/0103-6440201300394
dc.identifier.fileS0103-64402015000600561.pdf
dc.identifier.issn1806-4760
dc.identifier.issn0103-6440
dc.identifier.scieloS0103-64402015000600561
dc.identifier.scopus2-s2.0-84954071804
dc.identifier.urihttp://hdl.handle.net/11449/168292
dc.language.isoeng
dc.relation.ispartofBrazilian Dental Journal
dc.relation.ispartofsjr0,476
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectCleft lip and/or palate
dc.subjectFolic acid
dc.subjectGenetic polymorphisms
dc.subjectMTRR gene
dc.subjectSubphenotypes
dc.subjectTCN2 gene
dc.subjectVitamin B12
dc.titleGenetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palateen
dc.typeArtigo

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