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

Volumn 29, Issue 1, 2010, Pages 32-40

  Biselli, Patrícia Matos ^a   Guerzoni, Alexandre Rodrigues ^a   De Godoy, Moacir Fernandes ^a   Eberlin, Marcos Nogueira ^b   Haddad, Renato ^b   Carvalho, Valdemir Melechco ^c   Vannucchi, Hélio ^d   Pavarino Bertelli, Érika Cristina ^a   Goloni Bertollo, Eny Maria ^a  

^a FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c Fleury   (Brazil)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Coronary artery disease; Genetic polymorphisms; Homocysteine; Methylmalonic acid

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENOSINE; FOLIC ACID; HOMOCYSTEINE; METHIONINE SYNTHASE; METHYLMALONIC ACID;

ADULT; AGED; AMINO ACID BLOOD LEVEL; ARTICLE; CARDIOVASCULAR RISK; CASE CONTROL STUDY; CAUCASIAN; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CYANOCOBALAMIN DEFICIENCY; DIETARY INTAKE; FEMALE; FOLATE METABOLISM; FOLIC ACID BLOOD LEVEL; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; WILD TYPE;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADULT; AGED; CASE-CONTROL STUDIES; CORONARY ARTERY DISEASE; FEMALE; FOLIC ACID; HOMOCYSTEINE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); METHYLMALONIC ACID; MIDDLE AGED; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 77949912889     PISSN: 09295305     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11239-009-0321-7     Document Type: Article

References (56)

1. S Sadeghian F Fallahi M Salarifar, et al. 2006 Homocysteine, vitamin B12 and folate levels in premature coronary artery disease BMC Cardiovasc Disord 6 38 45 10.1186/1471-2261-6-38 10.1186/1471-2261-6-38 17002799 (Pubitemid 44541833)
2. JD Finkelstein 1998 The metabolism of homocysteine: pathways and regulation Eur J Pediatr 157 Suppl 2 40 44 10.1007/PL00014300 10.1007/PL00014300
3. IS Weisberg PF Jacques J Selhub, et al. 2001 The 1298A3C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine Atherosclerosis 156 409 415 10.1016/S0021-9150(00)00671-7 10.1016/S0021-9150(00)00671-7 1:CAS:528:DC%2BD3MXktVKqtbg%3D 11395038 (Pubitemid 32522922)
4. A Laraqui A Allami A Carrie, et al. 2006 Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on plasma homocysteine levels and relation to risk of coronary artery disease Acta Cardiol 61 51 61 10.2143/AC.61.1.2005140 10.2143/AC.61.1.2005140 16485733 (Pubitemid 43198501)
5. A Mager A Battler Y Birnbaum, et al. 2002 Plasma homocysteine, methylene-tetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia Am J Cardiol 89 919 923 10.1016/S0002-9149(02)02239-7 10.1016/S0002-9149(02)02239-7 1:CAS:528:DC%2BD38XisF2ktLw%3D 11950428 (Pubitemid 34310287)
6. M Cesari GP Rossi D Sticchi, et al. 2005 Is homocysteine important as risk factor for coronary heart disease? Nutr Metab Cardiovasc Dis 15 140 147 10.1016/j.numecd.2004.04.002 10.1016/j.numecd.2004.04.002 15871863 (Pubitemid 40716055)
7. S Nishtar 1999 The role of vitamins as risk modifying agents in coronary artery disease Pak J Cardiol 10 5 7
8. 6 concentrations: risk factors for stroke, peripheral vascular disease, and coronary artery disease: European COMAC Group Circulation 97 437 443 1:STN:280:DyaK1c7ktVKkuw%3D%3D 9490237
9. J Robertson F Iemolo SP Stabler, et al. 2005 Vitamin B12, homocysteine and carotid plaque in the era of folic acid fortification of enriched cereal grain products CMAJ 172 1569 1573 10.1503/cmaj.045055 15939916 (Pubitemid 40839528)
10. D Savage J Lindenbaum S Stabler, et al. 1994 Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies Am J Med 3 239 246 10.1016/0002-9343(94)90149- X 10.1016/0002-9343(94)90149-X (Pubitemid 24099223)
11. GG Klee 2000 Cobalamin and folate evaluation: measurement of methylmalonic acid and homocysteine vs vitamin B(12) and folate Clin Chem 46 1277 1283 1:CAS:528:DC%2BD3cXlvFWkur8%3D 10926922
12. RJ Kovachy SD Copley RH Allen 1983 Recognition, isolation, and characterization of rat liver d-methylmalonyl coenzyme A hydrolase J Biol Chem 258 11415 11421 1:CAS:528:DyaL3sXmtVymsb4%3D 6885824
13. SP Stabler PD Marcell RH Allen 1985 Isolation and characterization of d, l-methylmalonyl coenzyme A racemase from rat liver Arch Biochem Biophys 241 252 264 10.1016/0003-9861(85)90381-9 10.1016/0003-9861(85)90381-9 1:CAS:528:DyaL2MXltFymtbY%3D 2862845
14. VR Arruda LH Siqueira MS Gonçalves, et al. 1998 Prevalence of the mutation C677 → T in the Methylenetetrahydrofolate reductase gene among distinct ethnic groups in Brazil Am J Med Genet 78 332 335 10.1002/(SICI)1096- 8628(19980724)78:4<332::AID-AJMG5>3.0.CO;2-N 10.1002/(SICI)1096- 8628(19980724)78:4<332::AID-AJMG5>3.0.CO;2-N 1:STN:280: DyaK1cznvVagtA%3D%3D 9714434 (Pubitemid 28364401)
15. R Haddad MA Mendes NF Hoehr, et al. 2001 Amino acid quantitation in aqueous matrices via trap and release membrane introduction mass spectrometry: homocysteine in human plasma Analyst (Lond) 126 1212 1215 10.1039/b104038n 10.1039/b104038n 1:CAS:528:DC%2BD3MXls12htbk%3D (Pubitemid 32747732)
16. AP Vellasco R Haddad MN Eberlin, et al. 2002 Combined cysteine and homocysteine quantitation in plasma by trap and release membrane introduction mass spectrometry Analyst (Lond) 127 1050 1053 10.1039/b203832c 10.1039/b203832c 1:CAS:528:DC%2BD38Xlslanu7w%3D
17. VM Carvalho F Kok 2008 Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry Anal Biochem 381 67 73 10.1016/j.ab.2008.06.023 10.1016/j.ab.2008.06.023 1:CAS:528:DC%2BD1cXhtVSitbnI 18616922
18. AB Ribeiro MA Cardoso 2002 Construção de um questionário de freqüência alimentar como subsídio para programas de prevenção de doenças crônicas não transmissíveis Revista de Nutrição-Campinas 15 201 207
19. Institute of Medicine (1998) Dietary reference intakes for thiamin, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. 7 National Academy Press, Washington (DC)
20. SZ Abdel-Rahman AM Nouraldeen AE Ahmed 1994 Molecular interaction of [2, 3-14C] acrylonitrile with DNA in gastric tissues of rat J Biochem Toxicol 9 191 198 10.1002/jbt.2570090404 10.1002/jbt.2570090404 1:CAS:528:DyaK2cXmsVynsbY%3D 7853353
21. I Bova J Chapman C Sylantiev, et al. 1999 The A677 V methylenetetrahydrofolate reductase gene polymorphism and carotid atherosclerosis Stroke 30 2180 2182 1:CAS:528:DyaK1MXntFynu70%3D 10512925
22. N Ranjith RJ Pegoraro L Rom 2003 Risk factors and methylenetetrahydrofolate reductase gene polymorphisms in a young South African Indian-based population with acute myocardial infarction Cardiovasc J S Afr 14 127 132 1:STN:280:DC%2BD3szhsVSitQ%3D%3D 12844196
23. RC Austin SR Lentz GH Werstuck 2004 Role of hyperhomocysteinemia in endothelial dysfunction and atherothrombotic disease Cell Death Differ 11 Suppl 1 56 64 10.1038/sj.cdd.4401451 10.1038/sj.cdd.4401451 (Pubitemid 39136799)
24. S Nihei H Tasaki K Yamashita, et al. 2004 Hyperhomocysteinemia is associated with human coronary atherosclerosis through the reduction of the ratio of endothelium-bound to basal extracellular superoxide dismutase Circ J 68 822 828 10.1253/circj.68.822 10.1253/circj.68.822 1:CAS:528: DC%2BD2cXnvFWit7w%3D 15329502 (Pubitemid 39243802)
25. H Yilmaz S Isbir B Agachan, et al. 2006 C677T mutation of methylenetetrahydrofolate reductase gene and serum homocysteine levels in Turkish patients with coronary artery disease Cell Biochem Funct 24 87 90 10.1002/cbf.1206 10.1002/cbf.1206 1:CAS:528:DC%2BD28Xht12qsbg%3D 15648053 (Pubitemid 43171012)
26. YS Haviv V Shpichinetsky N Goldschmidt, et al. 2002 The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients Nephron 92 120 126 10.1159/000064485 10.1159/000064485 1:CAS:528:DC%2BD38XmtlCjsro%3D 12187094
27. C Meisel I Cascorbi T Gerloff, et al. 2001 Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease Atherosclerosis 154 651 658 10.1016/S0021-9150(00)00679-1 10.1016/S0021-9150(00)00679-1 1:CAS:528:DC%2BD3MXitVOmsr4%3D 11257266 (Pubitemid 32232162)
28. AR Guerzoni EC Pavarino-Bertelli MF Godoy, et al. 2007 Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease Sao Paulo Med J 125 4 8 10.1590/S1516-31802007000100002 10.1590/S1516-31802007000100002 17505678
29. K Kolling G Ndrepepa W Koch, et al. 2004 Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms, plasma homocysteine, folate, and vitamin B12 levels and the extent of coronary artery disease Am J Cardiol 93 1201 1206 10.1016/j.amjcard.2004.02.009 10.1016/j.amjcard.2004.02.009 15135689 (Pubitemid 38595670)
30. HJ Huh HS Chi EH Shim, et al. 2006 Gene-nutrition interactions in coronary artery disease: correlation between the MTHFR C677T polymorphism and folate and homocysteine status in a Korean population Thromb Res 117 501 506 10.1016/j.thromres.2005.04.009 10.1016/j.thromres.2005.04.009 1:CAS:528:DC%2BD28XitValtbw%3D 15935452 (Pubitemid 43326134)
31. SH Jee KS Song WH Shim, et al. 2002 Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography Hum Genet 111 128 135 10.1007/s00439-002-0757- 8 10.1007/s00439-002-0757-8 1:CAS:528:DC%2BD38Xmt1WisrY%3D 12189485 (Pubitemid 36075030)
32. CB Kebert JE Eichner WE Moore, et al. 2006 Relationship of the 1793G-A and 677C-T polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene to coronary artery disease Dis Markers 22 293 301 1:CAS:528:DC%2BD2sXptFChtg%3D%3D 17264399
33. I Weisberg P Tran B Christensen, et al. 1998 A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity Mol Genet Metab 64 169 172 10.1006/mgme.1998.2714 10.1006/mgme.1998.2714 1:CAS:528:DyaK1cXlvVygsrs%3D 9719624 (Pubitemid 28453294)
34. A Szczeklik M Sanak M Jankowski, et al. 2001 Mutation A1298C of methylene tetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia Am J Med Genet 101 36 39 10.1002/ajmg.1315 10.1002/ajmg.1315 1:STN:280:DC%2BD3Mzhs1Sqtw%3D%3D 11343335 (Pubitemid 32429908)
35. KK Abu-Amero CA Wyngaard N Dzimiri 2003 Prevalence and role of methylenetetrahydrofolate reductase 677 C → T and 1298 A → C polymorphisms in coronary artery disease in arabs Arch Pathol Lab Med 127 1349 1352 1:CAS:528:DC%2BD3sXosFOjs7g%3D 14521457
36. M Klerk KJA Lievers LAJ Kluijtmans, et al. 2003 The 2756A>G in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study Thromb Res 110 87 91 10.1016/S0049-3848(03)00341-4 10.1016/S0049-3848(03)00341-4 1:CAS:528:DC%2BD3sXlvVClsrs%3D 12893022 (Pubitemid 37329446)
37. A D'Angelo A Coppola P Madonna, et al. 2000 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 Thromb Haemost 83 563 570 10780318
38. H Morita H Kurihara T Sugiyama, et al. 1999 Polymorphism of the methionine synthase gene-association with homocysteine metabolism and late-onset vascular diseases in the Japanese population Arteriol Thromb Vasc Biol 19 298 302 1:CAS:528:DyaK1MXhsFSjtLg%3D
39. J Chen MJ Stampfer J Ma, et al. 2001 Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction Atherosclerosis 154 667 672 10.1016/S0021-9150(00) 00469-X 10.1016/S0021-9150(00)00469-X 1:CAS:528:DC%2BD3MXitVOmsrw%3D 11257268 (Pubitemid 32232164)
40. XL Wang H Cai G Cranney, et al. 1998 The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to smoking and coronary artery disease J Cardiovasc Risk 5 289 295 10.1097/00043798-199810000-00001 10.1097/00043798-199810000-00001 1:STN:280:DyaK1M7hs1OhtA%3D%3D 9919998
41. CJ Bates KD Pentieva A Prentice, et al. 1999 Plasma pyridoxal phosphate and pyridoxic acid and their relationship to plasma homocysteine in a representative sample of British men and women aged 65 years and over Br J Nutr 81 191 201 1:CAS:528:DyaK1MXjtFSntLs%3D 10434845
42. PW Siri P Verhoef FJ Kok 1998 Vitamins B6, B12, and folate: association with plasma total homocysteine and risk of coronary atherosclerosis J Am Coll Nutr 17 435 441 1:CAS:528:DyaK1cXmslCjsbk%3D 9791839
43. M Busch S Franke A Müller, et al. 2004 Potential cardiovascular risk factors in chronic kidney disease: AGEs, total homocysteine and metabolites, and the C-reactive protein Kidney Int 66 338 347 10.1111/j.1523-1755.2004.00736. x 10.1111/j.1523-1755.2004.00736.x 1:CAS:528:DC%2BD2cXmtVSit7Y%3D 15200442 (Pubitemid 38870111)
44. J Wang AS Sim XL Wang, et al. 2008 Relations between markers of renal function, coronary risk factors and the occurrence ans severity of coronary artery disease Atherosclerosis 197 853 859 10.1016/j.atherosclerosis.2007.07.034 10.1016/j.atherosclerosis.2007.07.034 1:CAS:528:DC%2BD1cXktFCktL4%3D 17826782
45. N Colman 1981 Laboratory assessment of folate status Clin Lab Med 1 775 796
46. MP Iqbal M Ishaq KA Kazmi, et al. 2005 Role of vitamins B6, B12 and folic acid on hyperhomocysteinemia in a Pakistani population of patients with acute myocardial infarction Nutr Metab Cardiovasc Dis 15 100 108 10.1016/j.numecd. 2004.05.003 10.1016/j.numecd.2004.05.003 1:STN:280:DC%2BD2M3jslyrug%3D%3D 15871858 (Pubitemid 40712474)
47. P Verhoef MJ Stampfer JE Buring, et al. 1996 Homocysteine metabolism and risk of myocardial infarction: relation with vitamins B6, B12, and folate Am J Epidemiol 143 845 859 1:STN:280:DyaK287ps1KjsQ%3D%3D 8610698
48. E Riboli H Ronnholm R Saracci 1987 Biological markers of diet Cancer Surv 6 685 718 1:STN:280:DyaL1c3ltlejsQ%3D%3D 2838169
49. M Kapiszewska M Kalemba U Wojciech, et al. 2005 Uracil misincorporation into DNA of leukocytes of young women with positive folate balance depends on plasma vitamin B12 concentrations and methylenetetrahydrofolate reductase polymorphisms. A pilot study J Nutr Biochem 16 467 478 10.1016/j.jnutbio.2005. 01.018 10.1016/j.jnutbio.2005.01.018 1:CAS:528:DC%2BD2MXmvVGjt70%3D 16043029 (Pubitemid 41039221)
50. PJ Bagley J Selhub 1998 A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells Proc Natl Acad Sci USA 95 13217 13220 10.1073/pnas.95.22.13217 10.1073/pnas.95.22.13217 1:CAS:528: DyaK1cXntFWrs78%3D 9789068 (Pubitemid 28509551)
51. D Girelli N Martinelli F Pizzolo, et al. 2003 The interaction between MTHFR 677 C → T genotype and folate status is a determinant of coronary atherosclerosis risk J Nutr 133 1281 1285 1:CAS:528:DC%2BD3sXjs1Oqtrk%3D 12730410
52. LA Kluijtmans IS Young CA Boreham, et al. 2003 Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults Blood 101 2483 2488 10.1182/blood.V101.7.2483 10.1182/blood.V101.7.2483 1:CAS:528: DC%2BD3sXivVWgtb0%3D 12642343 (Pubitemid 36857602)
53. J Geisel I Zimbelmann H Schorr, et al. 2001 Genetic defects as important factors for moderate hyperhomocysteinemia Clin Chem Lab Med 39 698 704 10.1515/CCLM.2001.115 10.1515/CCLM.2001.115 1:CAS:528:DC%2BD3MXotVSrsrg%3D 11592436 (Pubitemid 32894413)
54. ME Hyndman PJ Bridge JW Warnica, et al. 2000 Effect of heterozygosity for the methionine synthase 2756 A->G mutation on the risk for recurrent cardiovascular events Am J Cardiol 86 1144 1146 10.1016/S0002-9149(00)01177-2 10.1016/S0002-9149(00)01177-2 1:CAS:528:DC%2BD3cXnvValsr4%3D 11074217
55. A Vitarelli G De Curtis Y Conde, et al. 2002 Assessment of congenital coronary artery fistulas by transesophageal color Doppler echocardiography Am J Med 113 127 133 10.1016/S0002-9343(02)01157-9 10.1016/S0002-9343(02)01157-9 12133751
56. K Nieman BJ Rensing RJ Van Geuns, et al. 2002 Usefulness of multislice computed tomography for detecting obstructive coronary artery disease Am J Cardiol 89 913 918 10.1016/S0002-9149(02)02238-5 10.1016/S0002-9149(02)02238-5 11950427 (Pubitemid 34310286)