Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , |
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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7160 |
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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 |
repository.mail.fl_str_mv |
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1799138122363043840 |