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Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal).
Thromb Res. 2008; 122(5):648-56.TR

Abstract

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.

Authors+Show Affiliations

Human Genetics Laboratory, University of Madeira, Funchal, Portugal.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18384842

Citation

Freitas, Ana I., et al. "Methylenetetrahydrofolate Reductase Gene, Homocysteine and Coronary Artery Disease: the A1298C Polymorphism Does Matter. Inferences From a Case Study (Madeira, Portugal)." Thrombosis Research, vol. 122, no. 5, 2008, pp. 648-56.
Freitas AI, Mendonça I, Guerra G, et al. Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal). Thromb Res. 2008;122(5):648-56.
Freitas, 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), 648-56. https://doi.org/10.1016/j.thromres.2008.02.005
Freitas AI, et al. Methylenetetrahydrofolate Reductase Gene, Homocysteine and Coronary Artery Disease: the A1298C Polymorphism Does Matter. Inferences From a Case Study (Madeira, Portugal). Thromb Res. 2008;122(5):648-56. PubMed PMID: 18384842.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal). AU - Freitas,Ana I, AU - Mendonça,Isabel, AU - Guerra,Graça, AU - Brión,Maria, AU - Reis,Roberto P, AU - Carracedo,Angel, AU - Brehm,António, Y1 - 2008/04/01/ PY - 2007/11/22/received PY - 2008/01/23/revised PY - 2008/02/05/accepted PY - 2008/4/4/pubmed PY - 2008/12/17/medline PY - 2008/4/4/entrez SP - 648 EP - 56 JF - Thrombosis research JO - Thromb. Res. VL - 122 IS - 5 N2 - 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. SN - 0049-3848 UR - https://www.unboundmedicine.com/medline/citation/18384842/Methylenetetrahydrofolate_reductase_gene_homocysteine_and_coronary_artery_disease:_the_A1298C_polymorphism_does_matter__Inferences_from_a_case_study__Madeira_Portugal__ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0049-3848(08)00050-9 DB - PRIME DP - Unbound Medicine ER -