Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate

The 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

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Main Authors: Waltrick-Zambuzzi,Márcia, Tannure,Patricia Nivoloni, Vieira,Thays Cristine dos Santos, Antunes,Leonardo Santos, Romano,Fábio Lourenço, Zambuzzi,Willian Fernando, Granjeiro,José Mauro, Küchler,Erika Calvano
Format: Digital revista
Language:English
Published: Fundação Odontológica de Ribeirão Preto 2015
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-64402015000600561
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spelling oai:scielo:S0103-644020150006005612015-12-22Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or PalateWaltrick-Zambuzzi,MárciaTannure,Patricia NivoloniVieira,Thays Cristine dos SantosAntunes,Leonardo SantosRomano,Fábio LourençoZambuzzi,Willian FernandoGranjeiro,José MauroKüchler,Erika Calvano cleft lip and/or palate vitamin B12 folic acid MTRR gene TCN2 gene genetic polymorphisms subphenotypes The 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 etiologyinfo:eu-repo/semantics/openAccessFundação Odontológica de Ribeirão PretoBrazilian Dental Journal v.26 n.6 20152015-12-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-64402015000600561en10.1590/0103-6440201300394
institution SCIELO
collection OJS
country Brasil
countrycode BR
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access En linea
databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Waltrick-Zambuzzi,Márcia
Tannure,Patricia Nivoloni
Vieira,Thays Cristine dos Santos
Antunes,Leonardo Santos
Romano,Fábio Lourenço
Zambuzzi,Willian Fernando
Granjeiro,José Mauro
Küchler,Erika Calvano
spellingShingle Waltrick-Zambuzzi,Márcia
Tannure,Patricia Nivoloni
Vieira,Thays Cristine dos Santos
Antunes,Leonardo Santos
Romano,Fábio Lourenço
Zambuzzi,Willian Fernando
Granjeiro,José Mauro
Küchler,Erika Calvano
Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
author_facet Waltrick-Zambuzzi,Márcia
Tannure,Patricia Nivoloni
Vieira,Thays Cristine dos Santos
Antunes,Leonardo Santos
Romano,Fábio Lourenço
Zambuzzi,Willian Fernando
Granjeiro,José Mauro
Küchler,Erika Calvano
author_sort Waltrick-Zambuzzi,Márcia
title Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
title_short Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
title_full Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
title_fullStr Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
title_full_unstemmed Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
title_sort genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or palate
description The 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
publisher Fundação Odontológica de Ribeirão Preto
publishDate 2015
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-64402015000600561
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