Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only

Detalhes bibliográficos
Autor(a) principal: Vieira, A. R.
Data de Publicação: 2008
Outros Autores: Cooper, M. E., Marazita, M. L., Castilla, E. E., Orioli, I. M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/32257
Resumo: University of Pittsburgh. School of Dental Medicine. Department of Oral Biology. Pittsburgh, USA / University of Pittsburg. Center for Craniofacial and Dental Genetics. Department of Pediatric Dentistry. Pittsburgh, PA, USA / University of Pittsburg. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Pìttsburgh, PA, USA. / University of Pittsburgh. Graduate School of Public Health. Department of Human Genetics. Pittsburg, PA, USA.
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spelling Vieira, A. R.Cooper, M. E.Marazita, M. L.Castilla, E. E.Orioli, I. M.2019-03-28T11:44:29Z2019-03-28T11:44:29Z2008VIEIRA, A. R. et al. Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only. RFC1 contributes to cleft lip www.bjournal.com.br Brazilian Journal of Medical and Biological Research, v. 41, p.689-693, 2008.0100-879Xhttps://www.arca.fiocruz.br/handle/icict/322571414-431XengAssociação Brasileira de Divulgação CientíficaFenda labial e palatinaDNA mitocondrialFissuras oraisPortador de folato reduzido 1Cleft lip and palateReduced folate carrier 15,10-Methylenetetrahydrofolate reductaseFolateOral cleftsMitochondrial DNA5,10-Metilenotetra-Hidrofolato RedutaseProteína Carregadora de Folato Reduzido 1Ácido FólicoReduced folate carrier 1 (RFC1 ) is associated with cleft of the lip onlyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversity of Pittsburgh. School of Dental Medicine. Department of Oral Biology. Pittsburgh, USA / University of Pittsburg. Center for Craniofacial and Dental Genetics. Department of Pediatric Dentistry. Pittsburgh, PA, USA / University of Pittsburg. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Pìttsburgh, PA, USA. / University of Pittsburgh. Graduate School of Public Health. Department of Human Genetics. Pittsburg, PA, USA.University of Pittsburgh. School of Dental Medicine. Department of Oral Biology. Pittsburgh, USA / University of Pittsburg. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Pìttsburgh, PA, USA.University of Pittsburgh. School of Dental Medicine. Department of Oral Biology. Pittsburgh, USA / University of Pittsburg. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Pìttsburgh, PA, USA. / University of Pittsburg. Gradutate School of Public Health. Department of Human Genetics. Pittsburg, PA, USA / University of Pittsburg. School of Medicine. Department of Psychiatry. Pittsburg, PA, USA.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. ECLAMC. Rio de Janeiro, RJ. Brasil / ECLAMC at CEMIC. Buenos Aires, Argentina.Universidade Federal do Rio de Janeiro. Departamento de Genética. ECLAMC. Rio de janeiro, RJ, Brasil.In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by populationspecific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/32257/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALEE_Castilla_etal_IOC_2008.pdfEE_Castilla_etal_IOC_2008.pdfapplication/pdf446807https://www.arca.fiocruz.br/bitstream/icict/32257/2/EE_Castilla_etal_IOC_2008.pdfa1334c29aa17ace994ed663d35812470MD52TEXTEE_Castilla_etal_IOC_2008.pdf.txtEE_Castilla_etal_IOC_2008.pdf.txtExtracted texttext/plain22549https://www.arca.fiocruz.br/bitstream/icict/32257/3/EE_Castilla_etal_IOC_2008.pdf.txt3c8d41640f49d19a09826e2481742413MD53icict/322572019-04-04 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dc.title.pt_BR.fl_str_mv Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
title Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
spellingShingle Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
Vieira, A. R.
Fenda labial e palatina
DNA mitocondrial
Fissuras orais
Portador de folato reduzido 1
Cleft lip and palate
Reduced folate carrier 1
5,10-Methylenetetrahydrofolate reductase
Folate
Oral clefts
Mitochondrial DNA
5,10-Metilenotetra-Hidrofolato Redutase
Proteína Carregadora de Folato Reduzido 1
Ácido Fólico
title_short Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
title_full Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
title_fullStr Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
title_full_unstemmed Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
title_sort Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only
author Vieira, A. R.
author_facet Vieira, A. R.
Cooper, M. E.
Marazita, M. L.
Castilla, E. E.
Orioli, I. M.
author_role author
author2 Cooper, M. E.
Marazita, M. L.
Castilla, E. E.
Orioli, I. M.
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Vieira, A. R.
Cooper, M. E.
Marazita, M. L.
Castilla, E. E.
Orioli, I. M.
dc.subject.other.pt_BR.fl_str_mv Fenda labial e palatina
DNA mitocondrial
Fissuras orais
Portador de folato reduzido 1
topic Fenda labial e palatina
DNA mitocondrial
Fissuras orais
Portador de folato reduzido 1
Cleft lip and palate
Reduced folate carrier 1
5,10-Methylenetetrahydrofolate reductase
Folate
Oral clefts
Mitochondrial DNA
5,10-Metilenotetra-Hidrofolato Redutase
Proteína Carregadora de Folato Reduzido 1
Ácido Fólico
dc.subject.en.pt_BR.fl_str_mv Cleft lip and palate
Reduced folate carrier 1
5,10-Methylenetetrahydrofolate reductase
Folate
Oral clefts
Mitochondrial DNA
dc.subject.decs.pt_BR.fl_str_mv 5,10-Metilenotetra-Hidrofolato Redutase
Proteína Carregadora de Folato Reduzido 1
Ácido Fólico
description University of Pittsburgh. School of Dental Medicine. Department of Oral Biology. Pittsburgh, USA / University of Pittsburg. Center for Craniofacial and Dental Genetics. Department of Pediatric Dentistry. Pittsburgh, PA, USA / University of Pittsburg. School of Dental Medicine. Center for Craniofacial and Dental Genetics. Pìttsburgh, PA, USA. / University of Pittsburgh. Graduate School of Public Health. Department of Human Genetics. Pittsburg, PA, USA.
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2019-03-28T11:44:29Z
dc.date.available.fl_str_mv 2019-03-28T11:44:29Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.citation.fl_str_mv VIEIRA, A. R. et al. Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only. RFC1 contributes to cleft lip www.bjournal.com.br Brazilian Journal of Medical and Biological Research, v. 41, p.689-693, 2008.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/32257
dc.identifier.issn.pt_BR.fl_str_mv 0100-879X
dc.identifier.eissn.none.fl_str_mv 1414-431X
identifier_str_mv VIEIRA, A. R. et al. Reduced folate carrier 1 (RFC1 ) is associated with cleft of the lip only. RFC1 contributes to cleft lip www.bjournal.com.br Brazilian Journal of Medical and Biological Research, v. 41, p.689-693, 2008.
0100-879X
1414-431X
url https://www.arca.fiocruz.br/handle/icict/32257
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
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