Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palate
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/0103-6440201300394 http://hdl.handle.net/11449/168292 |
Resumo: | 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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Repositório Institucional da UNESP |
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Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or PalateCleft lip and/or palateFolic acidGenetic polymorphismsMTRR geneSubphenotypesTCN2 geneVitamin B12The 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.Dental School Universidade Veiga de AlmeidaClinical Research Unit Antonio Pedro University Hospital UFF - Universidade Federal FluminenseDepartment of Pediatric Clinic School of Dentistry of Ribeirão Preto USP - University of São PauloDepartament of Chemistry and Biochemistry UNESP Universidade Estadual PaulistaINMETRO – Instituto Nacional de Metrologia Qualidade e TecnologiaDepartament of Chemistry and Biochemistry UNESP Universidade Estadual PaulistaUniversidade Veiga de AlmeidaUniversidade Federal Fluminense (UFF)Universidade de São Paulo (USP)Universidade Estadual Paulista (Unesp)INMETRO – Instituto Nacional de Metrologia Qualidade e TecnologiaWaltrick-Zambuzzi, MárciaTannure, Patricia NivoloniVieira, Thays Cristinedos SantosAntunes, Leonardo SantosRomano, Fábio LourençoZambuzzi, Willian Fernando [UNESP]Granjeiro, José MauroKüchler, Erika Calvano2018-12-11T16:40:38Z2018-12-11T16:40:38Z2015-11-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article561-565application/pdfhttp://dx.doi.org/10.1590/0103-6440201300394Brazilian Dental Journal, v. 26, n. 6, p. 561-565, 2015.1806-47600103-6440http://hdl.handle.net/11449/16829210.1590/0103-6440201300394S0103-644020150006005612-s2.0-84954071804S0103-64402015000600561.pdfScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengBrazilian Dental Journal0,476info:eu-repo/semantics/openAccess2023-11-28T06:12:24Zoai:repositorio.unesp.br:11449/168292Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:54:56.757798Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palate |
title |
Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palate |
spellingShingle |
Genetic variants in folate and cobalamin metabolism-related genes in nonsyndromic cleft lip and/or Palate Waltrick-Zambuzzi, Márcia Cleft lip and/or palate Folic acid Genetic polymorphisms MTRR gene Subphenotypes TCN2 gene Vitamin B12 |
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 |
author |
Waltrick-Zambuzzi, Márcia |
author_facet |
Waltrick-Zambuzzi, Márcia Tannure, Patricia Nivoloni Vieira, Thays Cristinedos Santos Antunes, Leonardo Santos Romano, Fábio Lourenço Zambuzzi, Willian Fernando [UNESP] Granjeiro, José Mauro Küchler, Erika Calvano |
author_role |
author |
author2 |
Tannure, Patricia Nivoloni Vieira, Thays Cristinedos Santos Antunes, Leonardo Santos Romano, Fábio Lourenço Zambuzzi, Willian Fernando [UNESP] Granjeiro, José Mauro Küchler, Erika Calvano |
author2_role |
author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Veiga de Almeida Universidade Federal Fluminense (UFF) Universidade de São Paulo (USP) Universidade Estadual Paulista (Unesp) INMETRO – Instituto Nacional de Metrologia Qualidade e Tecnologia |
dc.contributor.author.fl_str_mv |
Waltrick-Zambuzzi, Márcia Tannure, Patricia Nivoloni Vieira, Thays Cristinedos Santos Antunes, Leonardo Santos Romano, Fábio Lourenço Zambuzzi, Willian Fernando [UNESP] Granjeiro, José Mauro Küchler, Erika Calvano |
dc.subject.por.fl_str_mv |
Cleft lip and/or palate Folic acid Genetic polymorphisms MTRR gene Subphenotypes TCN2 gene Vitamin B12 |
topic |
Cleft lip and/or palate Folic acid Genetic polymorphisms MTRR gene Subphenotypes TCN2 gene Vitamin B12 |
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. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-11-01 2018-12-11T16:40:38Z 2018-12-11T16:40:38Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/0103-6440201300394 Brazilian Dental Journal, v. 26, n. 6, p. 561-565, 2015. 1806-4760 0103-6440 http://hdl.handle.net/11449/168292 10.1590/0103-6440201300394 S0103-64402015000600561 2-s2.0-84954071804 S0103-64402015000600561.pdf |
url |
http://dx.doi.org/10.1590/0103-6440201300394 http://hdl.handle.net/11449/168292 |
identifier_str_mv |
Brazilian Dental Journal, v. 26, n. 6, p. 561-565, 2015. 1806-4760 0103-6440 10.1590/0103-6440201300394 S0103-64402015000600561 2-s2.0-84954071804 S0103-64402015000600561.pdf |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brazilian Dental Journal 0,476 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
561-565 application/pdf |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128998846234624 |