Literature DB >> 19283448

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

Patrícia Matos Biselli1, Alexandre Rodrigues Guerzoni, Moacir Fernandes de Godoy, Marcos Nogueira Eberlin, Renato Haddad, Valdemir Melechco Carvalho, Hélio Vannucchi, Erika Cristina Pavarino-Bertelli, Eny Maria Goloni-Bertollo.   

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.

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Year:  2009        PMID: 19283448     DOI: 10.1007/s11239-009-0321-7

Source DB:  PubMed          Journal:  J Thromb Thrombolysis        ISSN: 0929-5305            Impact factor:   2.300


  52 in total

1.  Genetic defects as important factors for moderate hyperhomocysteinemia.

Authors:  J Geisel; I Zimbelmann; H Schorr; J P Knapp; M Bodis; U Hübner; W Herrmann
Journal:  Clin Chem Lab Med       Date:  2001-08       Impact factor: 3.694

2.  Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction.

Authors:  J Chen; M J Stampfer; J Ma; J Selhub; M R Malinow; C H Hennekens; D J Hunter
Journal:  Atherosclerosis       Date:  2001-02-15       Impact factor: 5.162

3.  The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events.

Authors:  A D'Angelo; A Coppola; P Madonna; I Fermo; A Pagano; G Mazzola; L Galli; A M Cerbone
Journal:  Thromb Haemost       Date:  2000-04       Impact factor: 5.249

4.  Isolation and characterization of DL-methylmalonyl-coenzyme A racemase from rat liver.

Authors:  S P Stabler; P D Marcell; R H Allen
Journal:  Arch Biochem Biophys       Date:  1985-08-15       Impact factor: 4.013

5.  Prevalence of the mutation C677 --> T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil.

Authors:  V R Arruda; L H Siqueira; M S Gonçalves; P M von Zuben; M C Soares; R Menezes; J M Annichino-Bizzacchi; F F Costa
Journal:  Am J Med Genet       Date:  1998-07-24

6.  Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry.

Authors:  Valdemir Melechco Carvalho; Fernando Kok
Journal:  Anal Biochem       Date:  2008-06-20       Impact factor: 3.365

7.  Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease.

Authors:  Alexandre Rodrigues Guerzoni; Erika Cristina Pavarino-Bertelli; Moacir Fernandes de Godoy; Carla Renata Graça; Patrícia Matos Biselli; Dorotéia Rossi Silva Souza; Eny Maria Goloni Bertollo
Journal:  Sao Paulo Med J       Date:  2007-01-04       Impact factor: 1.044

8.  The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to smoking and coronary artery disease.

Authors:  X L Wang; H Cai; G Cranney; D E Wilcken
Journal:  J Cardiovasc Risk       Date:  1998 Oct-Dec

9.  Homocysteine metabolism and risk of myocardial infarction: relation with vitamins B6, B12, and folate.

Authors:  P Verhoef; M J Stampfer; J E Buring; J M Gaziano; R H Allen; S P Stabler; R D Reynolds; F J Kok; C H Hennekens; W C Willett
Journal:  Am J Epidemiol       Date:  1996-05-01       Impact factor: 4.897

10.  Prevalence and role of methylenetetrahydrofolate reductase 677 C-->T and 1298 A-->C polymorphisms in coronary artery disease in Arabs.

Authors:  Khaled K Abu-Amero; Carol A Wyngaard; Nduna Dzimiri
Journal:  Arch Pathol Lab Med       Date:  2003-10       Impact factor: 5.534

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  11 in total

1.  Frequency of the Methylenetetrahydrofolate REDUCTASE 677CT and 1298AC mutations in an Iranian Turkish female population.

Authors:  Morteza Bagheri; Isa Abdi Rad
Journal:  Maedica (Buchar)       Date:  2010-07

Review 2.  The Regulation and Characterization of Mitochondrial-Derived Methylmalonic Acid in Mitochondrial Dysfunction and Oxidative Stress: From Basic Research to Clinical Practice.

Authors:  Yige Liu; Shanjie Wang; Xiaoyuan Zhang; Hengxuan Cai; Jinxin Liu; Shaohong Fang; Bo Yu
Journal:  Oxid Med Cell Longev       Date:  2022-05-24       Impact factor: 7.310

Review 3.  Choline metabolites: gene by diet interactions.

Authors:  Tangi Smallwood; Hooman Allayee; Brian J Bennett
Journal:  Curr Opin Lipidol       Date:  2016-02       Impact factor: 4.776

4.  Genetic interactions between MTHFR (C677T), methionine synthase (A2756G, C2758G) variants with vitamin B12 and folic acid determine susceptibility to premature coronary artery disease in Indian population.

Authors:  V V Ravi Kanth; Jaya Prakash Golla; B K S Sastry; Sudhir Naik; Nitin Kabra; Madireddi Sujatha
Journal:  J Cardiovasc Dis Res       Date:  2011-07

5.  Association between MTHFR polymorphisms and congenital heart disease: a meta-analysis based on 9,329 cases and 15,076 controls.

Authors:  Chao Xuan; Hui Li; Jin-Xia Zhao; Hong-Wei Wang; Yi Wang; Chun-Ping Ning; Zhen Liu; Bei-Bei Zhang; Guo-Wei He; Li-Min Lun
Journal:  Sci Rep       Date:  2014-12-04       Impact factor: 4.379

6.  MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity.

Authors:  Dana Simona Chita; Anca Tudor; Ruxandra Christodorescu; Florina Nicoleta Buleu; Raluca Sosdean; Sanda Maria Deme; Simona Mercea; Adina Pop Moldovan; Ana Maria Pah; Any Docu Axelerad; Daniel Docu Axelerad; Simona Ruxanda Dragan
Journal:  Brain Sci       Date:  2020-07-24

7.  Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

Authors:  Kyung Shin Lee; Yoon Jung Choi; Jinwoo Cho; Hyunji Lee; Heejin Lee; Soo Jin Park; Joong Shin Park; Yun Chul Hong
Journal:  J Korean Med Sci       Date:  2021-07-19       Impact factor: 2.153

8.  Homocysteine Metabolism Gene Polymorphisms (MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G) Jointly Elevate the Risk of Folate Deficiency.

Authors:  Wen-Xing Li; Shao-Xing Dai; Jun-Juan Zheng; Jia-Qian Liu; Jing-Fei Huang
Journal:  Nutrients       Date:  2015-08-10       Impact factor: 5.717

9.  The MTHFR promoter hypermethylation pattern associated with the A1298C polymorphism influences lipid parameters and glycemic control in diabetic patients.

Authors:  Herlanny Santana Bezerra; Caroline Severo de Assis; Mayara Karla Dos Santos Nunes; Isabella Wanderley de Queiroga Evangelista; João Modesto Filho; Cecília Neta Alves Pegado Gomes; Rayner Anderson Ferreira do Nascimento; Rafaella Cristhine Pordeus Luna; Maria José de Carvalho Costa; Naila Francis Paulo de Oliveira; Darlene Camati Persuhn
Journal:  Diabetol Metab Syndr       Date:  2019-01-15       Impact factor: 3.320

10.  Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms in Georgian Females with Hypothyroidism.

Authors:  Tamar Kvaratskhelia; Elene Abzianidze; Ketevan Asatiani; Merab Kvintradze; Sandro Surmava; Eka Kvaratskhelia
Journal:  Glob Med Genet       Date:  2020-07-20
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