Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease

Detalhes bibliográficos
Autor(a) principal: Freitas, Ana I.
Data de Publicação: 2008
Outros Autores: Mendonça, Isabel, Guerra, Graça, Brión, Maria, Reis, Roberto P., Carracedo, Angel, Brehm, António
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/147869
Resumo: Funding Information: This study was supported by contract POCTI/38697/MGI/2001 from the Fundação para a Ciência e Tecnologia (Portugal). AIF is recipient of a Ph.D. research fellowship under contract SFRH/BD/8592/2002. The authors are indebted to José Jesus and Miguel Sequeira for valuable criticisms over the data analysis.
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spelling Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery diseaseThe A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal)Coronary artery diseaseGene polymorphismsHomocysteineMTHFRHematologyFunding Information: This study was supported by contract POCTI/38697/MGI/2001 from the Fundação para a Ciência e Tecnologia (Portugal). AIF is recipient of a Ph.D. research fellowship under contract SFRH/BD/8592/2002. The authors are indebted to José Jesus and Miguel Sequeira for valuable criticisms over the data analysis.Elevated levels of plasma homocysteine, an independent risk factor and a strong predictor of mortality in patients with coronary artery disease (CAD), can result from nutritional deficiencies or genetic errors, including methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms. The contribution of these polymorphisms in the development of CAD remains controversial. We analysed the impact of MTHFR C677T and A1298C on fasting homocysteine and CAD in 298 CAD patients proved by angiography and 510 control subjects from the Island of Madeira (Portugal). After adjustment for other risk factors, plasma homocysteine remained independently correlated with CAD. Serum homocysteine was significantly higher in individuals with 677TT and 1298AA genotypes. There was no difference in the distribution of MTHFR677 genotypes between cases and controls but a significant increase in 1298AA prevalence was found in CAD patients. In spite of the clear effect of C677T mutation on elevated homocysteine levels we only found an association between 1298AA genotype and CAD in this population. The simultaneous presence of 677CT and 1298AA genotypes provides a significant risk of developing the disease, while the 1298AC genotype, combined with 677CC, shows a significant trend towards a decrease in CAD occurrence. The data shows an independent association between elevated levels of homocysteine and CAD. Both MTHFR polymorphisms are associated with increased fasting homocysteine (677TT and 1298AA genotypes), but only the 1298AA variant shows an increased prevalence in CAD group. Odds ratio seem to indicate that individuals with the MTHFR 1298AA genotype and the 677CT/1298AA compound genotype had a 1.6-fold increased risk for developing CAD suggesting a possible association of MTHFR polymorphisms with the risk of CAD in Madeira population.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNFreitas, Ana I.Mendonça, IsabelGuerra, GraçaBrión, MariaReis, Roberto P.Carracedo, AngelBrehm, António2023-01-19T22:19:46Z20082008-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article9application/pdfhttp://hdl.handle.net/10362/147869eng0049-3848PURE: 51045442https://doi.org/10.1016/j.thromres.2008.02.005info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:29:09Zoai:run.unl.pt:10362/147869Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:53:07.078333Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
The A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal)
title Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
spellingShingle Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
Freitas, Ana I.
Coronary artery disease
Gene polymorphisms
Homocysteine
MTHFR
Hematology
title_short Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
title_full Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
title_fullStr Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
title_full_unstemmed Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
title_sort Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
author Freitas, Ana I.
author_facet Freitas, Ana I.
Mendonça, Isabel
Guerra, Graça
Brión, Maria
Reis, Roberto P.
Carracedo, Angel
Brehm, António
author_role author
author2 Mendonça, Isabel
Guerra, Graça
Brión, Maria
Reis, Roberto P.
Carracedo, Angel
Brehm, António
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Freitas, Ana I.
Mendonça, Isabel
Guerra, Graça
Brión, Maria
Reis, Roberto P.
Carracedo, Angel
Brehm, António
dc.subject.por.fl_str_mv Coronary artery disease
Gene polymorphisms
Homocysteine
MTHFR
Hematology
topic Coronary artery disease
Gene polymorphisms
Homocysteine
MTHFR
Hematology
description Funding Information: This study was supported by contract POCTI/38697/MGI/2001 from the Fundação para a Ciência e Tecnologia (Portugal). AIF is recipient of a Ph.D. research fellowship under contract SFRH/BD/8592/2002. The authors are indebted to José Jesus and Miguel Sequeira for valuable criticisms over the data analysis.
publishDate 2008
dc.date.none.fl_str_mv 2008
2008-01-01T00:00:00Z
2023-01-19T22:19:46Z
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://hdl.handle.net/10362/147869
url http://hdl.handle.net/10362/147869
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0049-3848
PURE: 51045442
https://doi.org/10.1016/j.thromres.2008.02.005
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 9
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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