The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease

Archives of Medical Science

Volumn 7, Issue 1, 2011, Pages 97-101

  Jacob, Maza Alves ^a   Bastos, Celso Da Cunha ^b   Bonini Domingos, Claudia Regina ^a  

^a SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^b FEDERAL UNIVERSITY OF GOIÁS   (Brazil)

Author keywords

Cystathionine beta synthase; Methylenetetrahydrofolate reductase; Polymorphism; Sickle cell disease

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTATHIONINE BETA SYNTHASE;

ADULT; ARTICLE; BLOOD VESSEL OCCLUSION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SICKLE CELL ANEMIA;

EID: 79952505965     PISSN: 17341922     EISSN: None     Source Type: Journal    
DOI: 10.5114/aoms.2011.20611     Document Type: Article

References (19)

1. Wald DS, Law M, Morris JK. Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis. BMJ 2002; 25: 1202-10.
2. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: A meta-analysis of published epidemiological studies. J Thromb Haemost 2005; 3: 292-9. (Pubitemid 41623617)
3. Schneede J, Refsum H, Ueland PM. Biological and environmental of plasma homocysteine. Semin Thromb Hemost 2000; 6: 263-79.
4. Eldibany MM, Caprini JA. Hyperhomocysteinemia and thrombosis. Arch Pathol Lab Med 2007; 131: 872-84.
5. Andreassi MG, Botto N, Cocci F, et al. Methylen e tetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease. Hum Genet 2003; 112: 171-7. (Pubitemid 36869100)
6. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine beta-synthase gene. Am J Hum Genet 199; 59: 1262-7.
7. Shmeleva VM, Kapustin SI, Papayan LP, Sobczyńska-Malefora A, Harrington DJ, Savidge GF. Prevalence of hyperhomocysteinemia and the MTHFRC677T polymorpism in patients with arterial and venous thrombosis from North Western Russia. Thromb Res 2003; 111: 351-8.
8. Juo SHH, Liao YC, Kuo CL, et al. The MTHFR 677 C/T polymorphism influences plasma levels of adhesion molecules and nitric oxide. Thromb Res 2008; 121: 549-54.
9. Gaustadnes M, Rudiger N, Rasmussen K, Ingerslev J. Intermediate and severe hyperhomocysteinemia with thrombosis: A study of genetic determinants. Thromb Haemost 2000; 83: 554-8. (Pubitemid 30201130)
10. Walter PB, Fung EB, Killilea DW, et al. Oxidative stress and inflammation in iron-overloaded patients with beta thalassaemia or sickle cell disease. Br J Haematol 2006; 135: 254-63. (Pubitemid 44401624)
11. Serjeant GR. The emerging understanding of sickle cell disease. Br J Haematol 2001; 112: 3-18. (Pubitemid 32151142)
12. Bonini-Domingos CR. Métodos laboratoriais para o diagnóstico de hemoglobinopatias e talassemias [Spanish]. São José do Rio Preto, HN 2006; 121.
13. Pena SDJ. DNA Bioprints: simple non-isotopic DNA fingerprints with biotinnylated probes. Electrophoresis 1991; 12: 146-52.
14. Sayki Y, Ueno I, Nakakoshi R, et al. Differentiation of selected abnormal hemoglobin by PCR-RFLP method. Rinsho Byori 1997; 45: 1163-6.
15. Chinelato-Fernandes AR. Diferenciação molecular de variants de hemoglobinas no Brasil [Spanish]. Sao Jose do Rio Preto, 227f. Thesis (Ph.D. in Genetics) - Institute of Biosciences, Letters and Exact Sciences, University Estadual Paulista 2003; 227f.
16. Frosst P, Blom Hj, Milos R. A candidate genetic risk factor for vascular disease: a common mutation in methylene-tetrahydrofolate reductase. Natur Genet 1995; 10: 111-3.
17. Steinberg MH, Lu ZH, Barton FB, et al. Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Blood 1997; 89: 1078-88. (Pubitemid 27121303)
18. Morelli VM, Lourenco DM, D'almeida V, et al. Hyperhomocysteinemia increases the risk of venous thrombosis independent of the C677T mutation of the methylenetetrahydrofolate reductase gene in selected Brazilian patients. Blood Coagul Fibrinolysis 2002; 13: 271-5.
19. Devlin AM, Clarke R, Birks J, et al. Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population. Am J Clin Nutr 2006; 83: 708-13. (Pubitemid 44699220)