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Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: The A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal)

2008Journal article Open access
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dc.contributor.authorFreitas, Ana I.
dc.contributor.authorMendonça, Isabel
dc.contributor.authorGuerra, Graça
dc.contributor.authorBrión, Maria
dc.contributor.authorReis, Roberto P.
dc.contributor.authorCarracedo, Angel
dc.contributor.authorBrehm, António
dc.date.accessioned2019-03-06T11:28:51Z
dc.date.available2019-03-06T11:28:51Z
dc.date.issued2008
dc.description.abstractElevated 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFreitas, A. I., Mendonça, I., Guerra, G., Brión, M., Reis, R. P., Carracedo, A., & Brehm, A. (2008). Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal). Thrombosis research, 122(5), 648-656.pt_PT
dc.identifier.doi10.1016/j.thromres.2008.02.005pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/28009
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectCase-Control Studiespt_PT
dc.subjectCoronary Artery Diseasept_PT
dc.subjectGene Frequencypt_PT
dc.subjectHomocysteinept_PT
dc.subjectHyperhomocysteinemiapt_PT
dc.subjectMethylenetetrahydrofolate Reductase (MTHFR)pt_PT
dc.subjectPortugalpt_PT
dc.subjectRisk Factorspt_PT
dc.subjectPolymorphism, Single Nucleotidept_PT
dc.subjectPortugalpt_PT
dc.subjectMadeirapt_PT
dc.titleMethylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: The A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal)pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage656pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage648pt_PT
oaire.citation.titleThrombosis Researchpt_PT
oaire.citation.volume122pt_PT
person.familyNameMendonca
person.givenNameMaria Isabel
person.identifier.orcid0000-0001-5450-5213
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationba3f31da-2490-4275-b438-a2bdef886460
relation.isAuthorOfPublication.latestForDiscoveryba3f31da-2490-4275-b438-a2bdef886460

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SESARAM - C - Unidade de Investigação Dr.ª Maria Isabel Mendonça