Advanced search
Start date
Betweenand
Related content
(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease

Full text
Author(s):
Biselli, Patricia Matos [1] ; Guerzoni, Alexandre Rodrigues [1] ; de Godoy, Moacir Fernandes [2] ; Eberlin, Marcos Nogueira [3] ; Haddad, Renato [3] ; Carvalho, Valdemir Melechco [4] ; Vannucchi, Helio [5] ; Pavarino-Bertelli, Erika Cristina [6, 1] ; Goloni-Bertollo, Eny Maria [6, 1]
Total Authors: 9
Affiliation:
[1] Sao Jose Do Rio Preto Med Sch FAMERP, Genet & Mol Biol Res Unit UPGEM, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil
[2] Sao Jose do Rio Preto Med Sch FAMERP, Dept Cardiol, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil
[3] State Univ Campinas UNICAMP, Dept Chem, Campinas, SP - Brazil
[4] Fleury Res Inst, Sao Paulo - Brazil
[5] Univ Sao Paulo, Dept Clin Med, BR-14049 Ribeirao Preto - Brazil
[6] Sao Jose do Rio Preto Med Sch FAMERP, Dept Mol Biol, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil
Total Affiliations: 6
Document type: Journal article
Source: JOURNAL OF THROMBOSIS AND THROMBOLYSIS; v. 29, n. 1, p. 32-40, JAN 2010.
Web of Science Citations: 18
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 mu mol/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. (AU)