Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down

Detalhes bibliográficos
Autor(a) principal: Victorino, Daniella Balduino
Data de Publicação: 2014
Tipo de documento: Dissertação
Idioma: por
Título da fonte: Biblioteca Digital de Teses e Dissertações da FAMERP
Texto Completo: http://bdtd.famerp.br/handle/tede/300
Resumo: Introduction Down syndrome (DS) is caused by the presence of three copies of chromosome 21 in consequence to chromosome nondisjunction in maternal meiosis observed in about 95% of cases. Genetic polymorphisms involved in folate metabolism were associated with the maternal risk for DS. However, the results are contradictories. Objectives To perform a systematic review and meta-analysis in order to evaluate the association between Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, Methionine synthase reductase (MTRR) A66G, Methionine synthase (MTR) A2756G, Reduced folate carrier 1 (RFC1) A80G, Cystathionine β-synthase (CβS) 844ins68, Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and Transcobalamin 2 (TC2) C776G genetic polymorphisms and the maternal risk for DS. Methods Studies were searched up to May 2014 on MEDLINE, EMBASE, LILACS, hand searched reference lists of published articles and conference meetings and personal communication. Case-control studies that evaluated the association between genetic polymorphisms in case mothers (DSM) and controls mothers (CM) were included. DSM are considered mothers that have gave birth to children with free trisomy of 21 chromosome and CM are considered mothers that have gave birth to children without chromosomal abnormality, syndrome or malformation. Studies with mothers of DS individuals with translocation or mosaicism, case reports, editorials and review articles were excluded. Data extraction and quality assessment were performed independently by two investigators. Meta-analysis assesses the associations between each genetic polymorphism and maternal risk for DS by dominant, recessive, codominant and allelic genetic models. Dichotomous outcome measures were pooled using fixed and random effects models and the results were expressed by odds ratio (OR) with 95% confidence intervals (95% CI). Heterogeneity between studies was evaluated using Q test and the I2 and subgroup and sensitivity analyses were performed in order to investigate the potential sources of heterogeneity. Publication bias was estimated using funnel plot and linear regression test. Results Collectively, 30 case-control studies including 3,101 DSM and 3,967 CM were included. Significant association between MTHFR C677T and MTRR A66G polymorphisms and maternal risk for DS was found when all population is considered. Subgroup and sensitivity analyses according ethnicity showed significant associations for the MTHFR C677T polymorphism in Caucasians, Brazilians and Asians and for the MTRR A66G polymorphism in Caucasians. Additionally, the results of the RFC1 A80G polymorphism demonstrated significant association, it was also found in Asians and maternal age less than 35 years at conception subgroups analyses. Finally, MTHFD1 1958GA genotype was revealed as maternal risk factor for DS when only studies with control group in Hardy-Weinberg equilibrium were considered. No association among MTHFR A1298C, MTR A2756G, CβS 844ins68 and TC2 C776G polymorphisms and maternal risk for DS was found. Conclusions MTHFR C677T, MTRR A66G, RFC1 A80G and MTHFD1 1958GA polymorphisms are associated with maternal risk for DS.
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spelling Pavarino, Érika CristinaLipay, Monica Vannucci NunesSouza, Dorotéia Rossi da Silva37759530862http://lattes.cnpq.br/2388515261009390Victorino, Daniella Balduino2016-10-03T18:49:30Z2014-10-06Victorino, Daniella Balduino. Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down. 2014. 125 p. Dissertação (Programa de Pós-Graduação em Ciências da Saúde) - Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto.1178http://bdtd.famerp.br/handle/tede/300Introduction Down syndrome (DS) is caused by the presence of three copies of chromosome 21 in consequence to chromosome nondisjunction in maternal meiosis observed in about 95% of cases. Genetic polymorphisms involved in folate metabolism were associated with the maternal risk for DS. However, the results are contradictories. Objectives To perform a systematic review and meta-analysis in order to evaluate the association between Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, Methionine synthase reductase (MTRR) A66G, Methionine synthase (MTR) A2756G, Reduced folate carrier 1 (RFC1) A80G, Cystathionine β-synthase (CβS) 844ins68, Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and Transcobalamin 2 (TC2) C776G genetic polymorphisms and the maternal risk for DS. Methods Studies were searched up to May 2014 on MEDLINE, EMBASE, LILACS, hand searched reference lists of published articles and conference meetings and personal communication. Case-control studies that evaluated the association between genetic polymorphisms in case mothers (DSM) and controls mothers (CM) were included. DSM are considered mothers that have gave birth to children with free trisomy of 21 chromosome and CM are considered mothers that have gave birth to children without chromosomal abnormality, syndrome or malformation. Studies with mothers of DS individuals with translocation or mosaicism, case reports, editorials and review articles were excluded. Data extraction and quality assessment were performed independently by two investigators. Meta-analysis assesses the associations between each genetic polymorphism and maternal risk for DS by dominant, recessive, codominant and allelic genetic models. Dichotomous outcome measures were pooled using fixed and random effects models and the results were expressed by odds ratio (OR) with 95% confidence intervals (95% CI). Heterogeneity between studies was evaluated using Q test and the I2 and subgroup and sensitivity analyses were performed in order to investigate the potential sources of heterogeneity. Publication bias was estimated using funnel plot and linear regression test. Results Collectively, 30 case-control studies including 3,101 DSM and 3,967 CM were included. Significant association between MTHFR C677T and MTRR A66G polymorphisms and maternal risk for DS was found when all population is considered. Subgroup and sensitivity analyses according ethnicity showed significant associations for the MTHFR C677T polymorphism in Caucasians, Brazilians and Asians and for the MTRR A66G polymorphism in Caucasians. Additionally, the results of the RFC1 A80G polymorphism demonstrated significant association, it was also found in Asians and maternal age less than 35 years at conception subgroups analyses. Finally, MTHFD1 1958GA genotype was revealed as maternal risk factor for DS when only studies with control group in Hardy-Weinberg equilibrium were considered. No association among MTHFR A1298C, MTR A2756G, CβS 844ins68 and TC2 C776G polymorphisms and maternal risk for DS was found. Conclusions MTHFR C677T, MTRR A66G, RFC1 A80G and MTHFD1 1958GA polymorphisms are associated with maternal risk for DS.Introdução Síndrome de Down (SD) é atribuída à presença de três cópias do cromossomo 21, decorrente da não-disjunção cromossômica meiótica materna em 95% dos casos. Polimorfismos genéticos maternos envolvidos no metabolismo do folato foram associados ao nascimento de indivíduos com a SD, porém os resultados dos estudos são contraditórios. Objetivos Avaliar, por meio de revisão sistemática e metanálise, a associação entre os polimorfismos genéticos maternos Metilenotetrahidrofolato redutase (MTHFR) C677T e A1298C, Metionina sintase redutase (MTRR) A66G, Metionina sintase (MTR) A2756G, Carreador de folato reduzido 1 (RFC1) A80G, Cistationina β-sintase (CβS) 844ins68, Metilenotetrahidrofolato desidrogenase 1 (MTHFD1) G1958A e Transcobalamina 2 (TC2) C776G e o nascimento de indivíduos com a SD. Métodos As buscas bibliográficas foram realizadas anteriormente a maio de 2014 e os bancos de dados utilizados foram: PUBMED, EMBASE, LILACS, lista de referências bibliográficas dos artigos selecionados, busca manual em anais de congressos e comunicação pessoal. Foram incluídos estudos caso-controle que avaliaram a presença dos polimorfismos genéticos em mães de crianças com SD por trissomia livre do cromossomo 21 (mães-caso) e em mães de crianças sem histórico de anormalidades cromossômicas, síndromes ou malformações (mães-controle). Os critérios de exclusão consistiram em estudos que incluíram mães de crianças com SD por translocação ou mosaicismo, relatos de caso, editoriais e artigos de revisão. A extração dos dados e a avaliação da qualidade dos estudos foram feitas por dois investigadores. A metanálise avaliou a associação entre cada polimorfismo e o risco materno para a SD por meio dos modelos genéticos dominante, recessivo, codominante e alélico. Medidas de desfecho dicotômicas foram sumarizadas utilizando-se modelos de efeito fixo e randômico e os resultados foram expressos em odds ratio (OR) com intervalo de confiança de 95% (IC 95%). A heterogeneidade entre estudos foi calculada pelo teste Q e pela estatística I2 e suas potenciais fontes foram investigadas pelas análises de sensibilidade e subgrupo. O viés de publicação foi estimado pelos funnel plot e teste de regressão linear. Resultados Coletivamente, 30 estudos caso-controle preencheram os critérios de elegibilidade, o que totalizou 3.101 mães-caso e 3.967 mães-controle. Foi verificada associação significativa entre os polimorfismos MTHFR C677T e MTRR A66G e o risco materno para SD. As análises de subgrupo de acordo com a etnia revelaram associações significativas para o polimorfismo MTHFR C677T e o risco materno para a SD em caucasianos, brasileiros e asiáticos e para o polimorfismo MTRR A66G em caucasianos. Adicionalmente, foi encontrada associação significativa para o polimorfismo RFC1 A80G e o risco materno para a SD e também nas análises de subgrupo de asiáticos e de mães com idade materna inferior a 35 anos no momento da concepção. Finalmente, o genótipo MTHFD1 1958GA revelou-se fator de risco materno para o nascimento de indivíduos com SD quando a análise foi restringida aos estudos cujo grupo controle estava em equilíbrio de Hardy-Weinberg. Nenhuma associação foi verificada para os polimorfismos MTHFR A1298C, MTR A2756G, CβS 844ins68 e TC2 C776G. Conclusões Os polimorfismos MTHFR C677T, MTRR A66G, RFC1 A80G e MTHFD1 G1958A são fatores de risco materno para a SD.Submitted by Fabíola Silva (fabiola.silva@famerp.br) on 2016-10-03T18:49:30Z No. of bitstreams: 1 daniellabalduinovictorino_dissert.pdf: 2037812 bytes, checksum: ec4892555795968e4470a593baca8ebc (MD5)Made available in DSpace on 2016-10-03T18:49:30Z (GMT). No. of bitstreams: 1 daniellabalduinovictorino_dissert.pdf: 2037812 bytes, checksum: ec4892555795968e4470a593baca8ebc (MD5) Previous issue date: 2014-10-06Fundação de Amparo à Pesquisa do Estado de São Paulo - FAPESP::-6491868300948288337::600application/pdfporFaculdade de Medicina de São José do Rio PretoPrograma de Pós-Graduação em Ciências da Saúde::1102159680310750095::500FAMERPBrasilFaculdade 1::Departamento 1::306626487509624506::500Down SyndromeMeta-AnalysisPolymorphism, GeneticReduced Folate Carrier ProteinSíndrome de DownMetanálisePolimorfismo GenéticoProteína Carregadora de Folato ReduzidoCIENCIAS DA SAUDE::8765449414823306929::600Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Downinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/openAccessreponame:Biblioteca Digital de Teses e Dissertações da FAMERPinstname:Faculdade de Medicina de São José do Rio Preto (FAMERP)instacron:FAMERPLICENSElicense.txtlicense.txttext/plain; charset=utf-82165bd3efa91386c1718a7f26a329fdcb468MD51ORIGINALdaniellabalduinovictorino_dissert.pdfdaniellabalduinovictorino_dissert.pdfapplication/pdf2037812ec4892555795968e4470a593baca8ebcMD52http://bdtd.famerp.br/bitstream/tede/300/1/license.txthttp://bdtd.famerp.br/bitstream/tede/300/2/daniellabalduinovictorino_dissert.pdftede/3002019-02-04 11:05:59.67oai:localhost: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Biblioteca Digital de Teses e Dissertaçõeshttp://bdtd.famerp.br/PUBhttps://bdtd.famerp.br/oai/requestsbdc@famerp.br||joao.junior@famerp.bropendoar:47112019-02-04T13:05:59Biblioteca Digital de Teses e Dissertações da FAMERP - Faculdade de Medicina de São José do Rio Preto (FAMERP)false
dc.title.por.fl_str_mv Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
title Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
spellingShingle Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
Victorino, Daniella Balduino
Down Syndrome
Meta-Analysis
Polymorphism, Genetic
Reduced Folate Carrier Protein
Síndrome de Down
Metanálise
Polimorfismo Genético
Proteína Carregadora de Folato Reduzido
CIENCIAS DA SAUDE::8765449414823306929::600
title_short Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
title_full Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
title_fullStr Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
title_full_unstemmed Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
title_sort Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down
author Victorino, Daniella Balduino
author_facet Victorino, Daniella Balduino
author_role author
dc.contributor.advisor1.fl_str_mv Pavarino, Érika Cristina
dc.contributor.referee1.fl_str_mv Lipay, Monica Vannucci Nunes
dc.contributor.referee2.fl_str_mv Souza, Dorotéia Rossi da Silva
dc.contributor.authorID.fl_str_mv 37759530862
dc.contributor.authorLattes.fl_str_mv http://lattes.cnpq.br/2388515261009390
dc.contributor.author.fl_str_mv Victorino, Daniella Balduino
contributor_str_mv Pavarino, Érika Cristina
Lipay, Monica Vannucci Nunes
Souza, Dorotéia Rossi da Silva
dc.subject.eng.fl_str_mv Down Syndrome
Meta-Analysis
Polymorphism, Genetic
Reduced Folate Carrier Protein
topic Down Syndrome
Meta-Analysis
Polymorphism, Genetic
Reduced Folate Carrier Protein
Síndrome de Down
Metanálise
Polimorfismo Genético
Proteína Carregadora de Folato Reduzido
CIENCIAS DA SAUDE::8765449414823306929::600
dc.subject.por.fl_str_mv Síndrome de Down
Metanálise
Polimorfismo Genético
Proteína Carregadora de Folato Reduzido
dc.subject.cnpq.fl_str_mv CIENCIAS DA SAUDE::8765449414823306929::600
description Introduction Down syndrome (DS) is caused by the presence of three copies of chromosome 21 in consequence to chromosome nondisjunction in maternal meiosis observed in about 95% of cases. Genetic polymorphisms involved in folate metabolism were associated with the maternal risk for DS. However, the results are contradictories. Objectives To perform a systematic review and meta-analysis in order to evaluate the association between Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, Methionine synthase reductase (MTRR) A66G, Methionine synthase (MTR) A2756G, Reduced folate carrier 1 (RFC1) A80G, Cystathionine β-synthase (CβS) 844ins68, Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and Transcobalamin 2 (TC2) C776G genetic polymorphisms and the maternal risk for DS. Methods Studies were searched up to May 2014 on MEDLINE, EMBASE, LILACS, hand searched reference lists of published articles and conference meetings and personal communication. Case-control studies that evaluated the association between genetic polymorphisms in case mothers (DSM) and controls mothers (CM) were included. DSM are considered mothers that have gave birth to children with free trisomy of 21 chromosome and CM are considered mothers that have gave birth to children without chromosomal abnormality, syndrome or malformation. Studies with mothers of DS individuals with translocation or mosaicism, case reports, editorials and review articles were excluded. Data extraction and quality assessment were performed independently by two investigators. Meta-analysis assesses the associations between each genetic polymorphism and maternal risk for DS by dominant, recessive, codominant and allelic genetic models. Dichotomous outcome measures were pooled using fixed and random effects models and the results were expressed by odds ratio (OR) with 95% confidence intervals (95% CI). Heterogeneity between studies was evaluated using Q test and the I2 and subgroup and sensitivity analyses were performed in order to investigate the potential sources of heterogeneity. Publication bias was estimated using funnel plot and linear regression test. Results Collectively, 30 case-control studies including 3,101 DSM and 3,967 CM were included. Significant association between MTHFR C677T and MTRR A66G polymorphisms and maternal risk for DS was found when all population is considered. Subgroup and sensitivity analyses according ethnicity showed significant associations for the MTHFR C677T polymorphism in Caucasians, Brazilians and Asians and for the MTRR A66G polymorphism in Caucasians. Additionally, the results of the RFC1 A80G polymorphism demonstrated significant association, it was also found in Asians and maternal age less than 35 years at conception subgroups analyses. Finally, MTHFD1 1958GA genotype was revealed as maternal risk factor for DS when only studies with control group in Hardy-Weinberg equilibrium were considered. No association among MTHFR A1298C, MTR A2756G, CβS 844ins68 and TC2 C776G polymorphisms and maternal risk for DS was found. Conclusions MTHFR C677T, MTRR A66G, RFC1 A80G and MTHFD1 1958GA polymorphisms are associated with maternal risk for DS.
publishDate 2014
dc.date.issued.fl_str_mv 2014-10-06
dc.date.accessioned.fl_str_mv 2016-10-03T18:49:30Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.citation.fl_str_mv Victorino, Daniella Balduino. Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down. 2014. 125 p. Dissertação (Programa de Pós-Graduação em Ciências da Saúde) - Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto.
dc.identifier.uri.fl_str_mv http://bdtd.famerp.br/handle/tede/300
dc.identifier.doi.por.fl_str_mv 1178
identifier_str_mv Victorino, Daniella Balduino. Revisão sistemática e metanálise da associação entre polimorfismos genéticos maternos envolvidos no metabolismo do folato e o nascimento de indivíduos com Síndrome de Down. 2014. 125 p. Dissertação (Programa de Pós-Graduação em Ciências da Saúde) - Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto.
1178
url http://bdtd.famerp.br/handle/tede/300
dc.language.iso.fl_str_mv por
language por
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Faculdade de Medicina de São José do Rio Preto
dc.publisher.program.fl_str_mv Programa de Pós-Graduação em Ciências da Saúde::1102159680310750095::500
dc.publisher.initials.fl_str_mv FAMERP
dc.publisher.country.fl_str_mv Brasil
dc.publisher.department.fl_str_mv Faculdade 1::Departamento 1::306626487509624506::500
publisher.none.fl_str_mv Faculdade de Medicina de São José do Rio Preto
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