Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility

PLoS ONE

Volumn 2, Issue 6, 2007, Pages

  Giusti, Betti ^a   Gori, Anna Maria ^a   Marcucci, Rossella ^a   Sestini, Ilaria ^a   Saracini, Claudia ^a   Sticchi, Elena ^b   Gensini, Francesca ^a   Fatini, Cinzia ^a   Abbate, Rosanna ^a   Gensini, Gian Franco ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NOS3 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BLOOD; CASE CONTROL STUDY; COMPARATIVE STUDY; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HEART ATRIUM FIBRILLATION; HUMAN; HYPERHOMOCYSTEINEMIA; MALE; MIDDLE AGED; PATHOLOGY; PROGNOSIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADULT; AGED; AGED, 80 AND OVER; ATRIAL FIBRILLATION; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RISK FACTORS; YOUNG ADULT;

EID: 77951649037     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000495     Document Type: Article

References (28)

1. Peters NS, Schilling RJ, Kanagaratnam P, Markides V, (2002) Atrial fibrillation: strategies to control, combat, and cure. Lancet 359: 593-603.
2. Nakano Y, Niida S, Dote K, Takenaka S, Hirao H, et al.(2004) Matrix metalloproteinase-9 contributes to human atrial remodeling during atrial fibrillation. J Am Coll Cardiol 43: 818-825.
3. Xu J, Cui G, Esmailian F, Plunkett M, Marelli D, et al.(2004) Atrial extracellular matrix remodeling and the maintenance of atrial fibrillation. Atrial extracellular matrix remodeling and the maintenance of atrial fibrillation. Circulation 109: 363-368.
4. Arndt M, Lendeckel U, Rocken C, Nepple K, Wolke C, et al.(2002) Altered expression of ADAMs (A Disintegrin And Metalloproteinase) in fibrillating human atria. Circulation 105: 720-725.
5. Hunt MJ, Tyagi SC, (2002) Peroxisome proliferators compete and ameliorate Hcy-mediated endocardial endothelial cell activation. Am J Physiol Cell Physiol 283: C1073-C1079.
6. Chaussalet M, Lamy E, Foucault-Bertaud A, Genovesio C, et al.(2004) Homocysteine modulates the proteolytic potential of human vascular endothelial cells. Biochem Biophys Res Commun 316: 170-176.
7. Bescond A, Augier T, Chareyre C, Garcon D, Hornebeck W, Charpiot P, (1999) Influence of homocysteine on matrix metalloproteinase-2: activation and activity. Biochem Biophys Res Commun 263: 498-503.
8. Sood HS, Hunt MJ, Tyagi SC, (2003) Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia. Am J Physiol Lung Cell Mol Physiol 284: L333-L341.
9. Marcucci R, Betti I, Cecchi E, Poli D, Giusti B, et al.(2004) Hyperhomocysteinemia and vitamin B6 deficiency: new risk markers for nonvalvular atrial fibrillation? Am Heart J 148: 456-461.
10. Fowler B, (2005) Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med 5: 77-86.
11. Gellekink H, den Heijer M, Heil SG, Blom HJ, (2005) Genetic determinants of plasma total homocysteine. Semin Vasc Med 5: 98-109.
12. Rozen R, (1997) Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 78: 523-526.
13. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R et al, (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64: 169-172.
14. Sharp L, Little J, (2004) Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 159: 423-443.
15. Fatini C, Sofi F, Gori AM, Sticchi E, Marcucci R, et al.(2005) Endothelial nitric oxide synthase -786T>C, but not 894G>T and 4a4b, polymorphism influences plasma homocysteine concentrations in persons with normal vitamin status. Clin Chem 51: 1159-1164.
16. Giusti B, Frusconi S, Rossi L, Bernabini S, Poggi F, et al.(2004) Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale. Clin Chem 50: 775-777.
17. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, et al.(1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93: 7-9.
18. Girelli D, Friso S, Trabetti E, Olivieri O, Russo C, et al.(1998) Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction. Blood 91: 4158-4163.
19. Ashfield-Watt PA, Pullin CH, Whiting JM, Clark ZE, Moat SJ, et al.(2002) Methylenetetrahydrofolate reductase 677C->T genotype modulates homocysteine responses to a folate-rich diet or a low-dose folic acid supplement: a randomized controlled trial. Am J Clin Nutr 76: 180-186.
20. Chen J, Ma J, Stampfer MJ, Palomeque C, Selhub J, Hunter DJ, (2002) Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer. Pharmacogenetics 12: 339-342.
21. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, et al.(1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 62: 1044-1051.
22. Ogino S, Wilson RB, (2003) Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet 48: 1-7.
23. Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, et al.(2001) The 1298A->C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 156: 409-415.
24. Giusti B, Porciani MC, Brunelli T, Evangelisti L, Fedi S, et al.(2003) Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism. Eur Heart J 24: 2038-2045.
25. Giusti B, Marcucci R, Lapini I, Sestini I, Lenti M, et al.(2004) Role of hyperhomocysteinemia in aortic disease. Cell Mol Biol (Noisy-le-grand) 50: 945-952.
26. Sharma P, Senthilkumar RD, Brahmachari V, Sundaramoorthy E, Mahajan A, et al.(2006) Mining literature for a comprehensive pathway analysis: a case study for retrieval of homocysteine related genes for genetic and epigenetic studies. Lipids Health Dis 5: 1.
27. Kono S, Chen K, (2005) Genetic polymorphisms of methylenetetrahydrofolate reductase and colorectal cancer and adenoma. Cancer Sci 96: 535-542.
28. Robien K, Ulrich CM, (2003) 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview. Am J Epidemiol 157: 571-582.