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Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease.
J Thromb Thrombolysis. 2010 Jan; 29(1):32-40.JT

Abstract

OBJECTIVES

Alterations in the enzymes involved in homocysteine (Hcy) metabolism or vitamin deficiency could play a role in coronary artery disease (CAD) development. This study investigated the influence of MTHFR and MTR gene polymorphisms, plasma folate and MMA on Hcy concentrations and CAD development. MMA and folate concentrations were also investigated according to the polymorphisms.

METHODS

Two hundred and eighty-three unrelated Caucasian individuals undergoing coronary angiography (175 with CAD and 108 non-CAD) were assessed in a case-control study. Plasma Hcy and MMA were measured by liquid chromatography/tandem mass spectrometry. Plasma folate was measured by competitive immunoassay. Dietary intake was evaluated using a nutritional questionnaire. Polymorphisms MTHFR and MTR were investigated by polymerase chain reaction (PCR) followed by enzyme digestion or allele-specific PCR.

RESULTS

Hcy mean concentrations were higher in CAD patients compared to controls, but below statistical significance (P = 0.246). Increased MMA mean concentrations were frequently observed in the CAD group (P = 0.048). Individuals with MMA concentrations >0.5 micromol/l (vitamin B(12) deficiency) were found only in the CAD group (P = 0.004). A positive correlation between MMA and Hcy mean concentrations was observed in both groups, CAD (P = 0.001) and non-CAD (P = 0.020). MMA mean concentrations were significantly higher in patients with hyperhomocysteinemia in both groups, CAD and non-CAD (P = 0.0063 and P = 0.013, respectively). Folate mean concentration was significantly lower in carriers of the wild-type MTHFR 1298AA genotype (P = 0.010).

CONCLUSION

Our results suggest a correlation between the MTHFR A1298C polymorphism and plasma folate concentration. Vitamin B(12) deficiency, reflected by increased MMA concentration, is an important risk factor for the development both of hyperhomocysteinemia and CAD.

Authors+Show Affiliations

Genetics and Molecular Biology Research Unit-UPGEM, São José do Rio Preto Medical School-FAMERP, Av. Brigadeiro Faria Lima, N masculine 5416, Bloco U-6, São José do Rio Preto, SP, 15.090-000, Brazil. patriciabiselli@famerp.brNo affiliation info availableNo affiliation info availableNo 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

19283448

Citation

Biselli, Patrícia Matos, et al. "Genetic Polymorphisms Involved in Folate Metabolism and Concentrations of Methylmalonic Acid and Folate On Plasma Homocysteine and Risk of Coronary Artery Disease." Journal of Thrombosis and Thrombolysis, vol. 29, no. 1, 2010, pp. 32-40.
Biselli PM, Guerzoni AR, de Godoy MF, et al. Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease. J Thromb Thrombolysis. 2010;29(1):32-40.
Biselli, P. M., Guerzoni, A. R., de Godoy, M. F., Eberlin, M. N., Haddad, R., Carvalho, V. M., Vannucchi, H., Pavarino-Bertelli, E. C., & Goloni-Bertollo, E. M. (2010). Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease. Journal of Thrombosis and Thrombolysis, 29(1), 32-40. https://doi.org/10.1007/s11239-009-0321-7
Biselli PM, et al. Genetic Polymorphisms Involved in Folate Metabolism and Concentrations of Methylmalonic Acid and Folate On Plasma Homocysteine and Risk of Coronary Artery Disease. J Thromb Thrombolysis. 2010;29(1):32-40. PubMed PMID: 19283448.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease. AU - Biselli,Patrícia Matos, AU - Guerzoni,Alexandre Rodrigues, AU - de Godoy,Moacir Fernandes, AU - Eberlin,Marcos Nogueira, AU - Haddad,Renato, AU - Carvalho,Valdemir Melechco, AU - Vannucchi,Hélio, AU - Pavarino-Bertelli,Erika Cristina, AU - Goloni-Bertollo,Eny Maria, Y1 - 2009/03/13/ PY - 2008/04/25/received PY - 2009/02/23/accepted PY - 2009/3/14/entrez PY - 2009/3/14/pubmed PY - 2010/4/3/medline SP - 32 EP - 40 JF - Journal of thrombosis and thrombolysis JO - J. Thromb. Thrombolysis VL - 29 IS - 1 N2 - OBJECTIVES: Alterations in the enzymes involved in homocysteine (Hcy) metabolism or vitamin deficiency could play a role in coronary artery disease (CAD) development. This study investigated the influence of MTHFR and MTR gene polymorphisms, plasma folate and MMA on Hcy concentrations and CAD development. MMA and folate concentrations were also investigated according to the polymorphisms. METHODS: Two hundred and eighty-three unrelated Caucasian individuals undergoing coronary angiography (175 with CAD and 108 non-CAD) were assessed in a case-control study. Plasma Hcy and MMA were measured by liquid chromatography/tandem mass spectrometry. Plasma folate was measured by competitive immunoassay. Dietary intake was evaluated using a nutritional questionnaire. Polymorphisms MTHFR and MTR were investigated by polymerase chain reaction (PCR) followed by enzyme digestion or allele-specific PCR. RESULTS: Hcy mean concentrations were higher in CAD patients compared to controls, but below statistical significance (P = 0.246). Increased MMA mean concentrations were frequently observed in the CAD group (P = 0.048). Individuals with MMA concentrations >0.5 micromol/l (vitamin B(12) deficiency) were found only in the CAD group (P = 0.004). A positive correlation between MMA and Hcy mean concentrations was observed in both groups, CAD (P = 0.001) and non-CAD (P = 0.020). MMA mean concentrations were significantly higher in patients with hyperhomocysteinemia in both groups, CAD and non-CAD (P = 0.0063 and P = 0.013, respectively). Folate mean concentration was significantly lower in carriers of the wild-type MTHFR 1298AA genotype (P = 0.010). CONCLUSION: Our results suggest a correlation between the MTHFR A1298C polymorphism and plasma folate concentration. Vitamin B(12) deficiency, reflected by increased MMA concentration, is an important risk factor for the development both of hyperhomocysteinemia and CAD. SN - 1573-742X UR - https://www.unboundmedicine.com/medline/citation/19283448/Genetic_polymorphisms_involved_in_folate_metabolism_and_concentrations_of_methylmalonic_acid_and_folate_on_plasma_homocysteine_and_risk_of_coronary_artery_disease_ L2 - https://doi.org/10.1007/s11239-009-0321-7 DB - PRIME DP - Unbound Medicine ER -