메뉴 건너뛰기




Volumn 19, Issue 3, 2013, Pages 309-314

The 677C>T mutation of the MTHFR gene increases the risk of venous thromboembolism in koreans and a meta-analysis from asian population

Author keywords

1298A> C; 677C> T; methylenetetrahydrofolate reductase; venous thromboembolism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

EID: 84878892613     PISSN: 10760296     EISSN: 19382723     Source Type: Journal    
DOI: 10.1177/1076029612436677     Document Type: Article
Times cited : (15)

References (20)
  • 1
    • 0035909980 scopus 로고    scopus 로고
    • Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase
    • Yamada K, Chen Z, Rozen R, Matthews RG. Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. Proc Natl Acad Sci U S A. 2001 ; 98 ((26)). 14853-14858
    • (2001) Proc Natl Acad Sci U S A , vol.98 , Issue.26 , pp. 14853-14858
    • Yamada, K.1    Chen, Z.2    Rozen, R.3    Matthews, R.G.4
  • 2
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 ; 10 ((1)). 111-113
    • (1995) Nat Genet , vol.10 , Issue.1 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 3
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
    • van der Put NM, Gabreels F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet. 1998 ; 62 ((5)). 1044-1051
    • (1998) Am J Hum Genet , vol.62 , Issue.5 , pp. 1044-1051
    • Van Der Put, N.M.1    Gabreels, F.2    Stevens, E.M.3
  • 4
    • 0032497941 scopus 로고    scopus 로고
    • Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: The result of a meta-analysis
    • Brattstrom L, Wilcken DE, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation. 1998 ; 98 ((23)). 2520-2526
    • (1998) Circulation , vol.98 , Issue.23 , pp. 2520-2526
    • Brattstrom, L.1    Wallis, D.E.2    Ohrvik, J.3    Brudin, L.4
  • 5
    • 0023696435 scopus 로고
    • Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase
    • Kang SS, Zhou J, Wong PW, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988 ; 43 ((4)). 414-421
    • (1988) Am J Hum Genet , vol.43 , Issue.4 , pp. 414-421
    • Kang, S.S.1    Zhou, J.2    Wong, P.W.3    Kowalisyn, J.4    Strokosch, G.5
  • 6
    • 0035703673 scopus 로고    scopus 로고
    • Polymorphisms in genes involved in folate metabolism as risk factors for NTDs
    • De Marco P, Calevo MG, Moroni A, et al. Polymorphisms in genes involved in folate metabolism as risk factors for NTDs. Eur J Pediatr Surg. 2001 ; 11 ((suppl 1)). S14 - S17
    • (2001) Eur J Pediatr Surg , vol.11 , Issue.SUPPL. 1
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3
  • 7
    • 0035987006 scopus 로고    scopus 로고
    • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    • De Marco P, Calevo MG, Moroni A, et al. Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J Hum Genet. 2002 ; 47 ((6)). 319-324
    • (2002) J Hum Genet , vol.47 , Issue.6 , pp. 319-324
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3
  • 8
    • 20444445722 scopus 로고    scopus 로고
    • Homocysteine, MTHFR and risk of venous thrombosis: A meta-analysis of published epidemiological studies
    • 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 ((2)). 292-299
    • (2005) J Thromb Haemost , vol.3 , Issue.2 , pp. 292-299
    • Den Heijer, M.1    Lewington, S.2    Clarke, R.3
  • 9
    • 0034000380 scopus 로고    scopus 로고
    • Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia
    • Fujimura H, Kawasaki T, Sakata T, et al. Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia. Thromb Res. 2000 ; 98 ((1)). 1-8
    • (2000) Thromb Res , vol.98 , Issue.1 , pp. 1-8
    • Fujimura, H.1    Kawasaki, T.2    Sakata, T.3
  • 10
    • 0033972749 scopus 로고    scopus 로고
    • The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese
    • Lin JS, Shen MC, Tsai W, Lin B. The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese. Thromb Res. 2000 ; 97 ((3)). 89-94
    • (2000) Thromb Res , vol.97 , Issue.3 , pp. 89-94
    • Lin, J.S.1    Shen, M.C.2    Tsai, W.3    Lin, B.4
  • 11
    • 0033861598 scopus 로고    scopus 로고
    • Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population
    • Zheng YZ, Tong J, Do XP, Pu XQ, Zhou BT. Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population. Br J Haematol. 2000 ; 109 ((4)). 870-874
    • (2000) Br J Haematol , vol.109 , Issue.4 , pp. 870-874
    • Zheng, Y.Z.1    Tong, J.2    Do, X.P.3    Pu, X.Q.4    Zhou, B.T.5
  • 12
    • 0022472013 scopus 로고
    • Activation of endogenous factor v by a homocysteine-induced vascular endothelial cell activator
    • Rodgers GM, Kane WH. Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator. J Clin Invest. 1986 ; 77 ((6)). 1909-1916
    • (1986) J Clin Invest , vol.77 , Issue.6 , pp. 1909-1916
    • Rodgers, G.M.1    Kane, W.H.2
  • 13
    • 0026345948 scopus 로고
    • Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine
    • Lentz SR, Sadler JE. Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine. J Clin Invest. 1991 ; 88 ((6)). 1906-1914
    • (1991) J Clin Invest , vol.88 , Issue.6 , pp. 1906-1914
    • Lentz, S.R.1    Sadler, J.E.2
  • 14
    • 0027319970 scopus 로고
    • Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells
    • Nishinaga M, Ozawa T, Shimada K. Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells. J Clin Invest. 1993 ; 92 ((3)). 1381-1386
    • (1993) J Clin Invest , vol.92 , Issue.3 , pp. 1381-1386
    • Nishinaga, M.1    Ozawa, T.2    Shimada, K.3
  • 15
    • 0032540276 scopus 로고    scopus 로고
    • Tissue plasminogen activator binding to the annexin II tail domain. Direct modulation by homocysteine
    • Hajjar KA, Mauri L, Jacovina AT, et al. Tissue plasminogen activator binding to the annexin II tail domain. Direct modulation by homocysteine. J Biol Chem. 1998 ; 273 ((16)). 9987-9993
    • (1998) J Biol Chem , vol.273 , Issue.16 , pp. 9987-9993
    • Hajjar, K.A.1    Mauri, L.2    Jacovina, A.T.3
  • 16
    • 0030760946 scopus 로고    scopus 로고
    • A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor v (factor V: Q506)
    • Cattaneo M, Tsai MY, Bucciarelli P, et al. A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V: Q506). Arterioscler Thromb Vasc Biol. 1997 ; 17 ((9)). 1662-1666
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , Issue.9 , pp. 1662-1666
    • Cattaneo, M.1    Tsai, M.Y.2    Bucciarelli, P.3
  • 17
    • 0037163849 scopus 로고    scopus 로고
    • MTHFR 677C - >t polymorphism and risk of coronary heart disease: A meta-analysis
    • Klerk M, Verhoef P, Clarke R, et al. MTHFR 677C - >T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA. 2002 ; 288 ((16)). 2023-2031
    • (2002) JAMA , vol.288 , Issue.16 , pp. 2023-2031
    • Klerk, M.1    Verhoef, P.2    Clarke, R.3
  • 18
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998 ; 64 ((3)). 169-172
    • (1998) Mol Genet Metab , vol.64 , Issue.3 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 19
    • 0036630169 scopus 로고    scopus 로고
    • Mutations C677T and A1298C of the 5,10-methylenetetrahydrofolate reductase gene and fasting plasma homocysteine levels are not associated with the increased risk of venous thromboembolic disease
    • Domagala TB, Adamek L, Nizankowska E, Sanak M, Szczeklik A. Mutations C677T and A1298C of the 5,10-methylenetetrahydrofolate reductase gene and fasting plasma homocysteine levels are not associated with the increased risk of venous thromboembolic disease. Blood Coagul Fibrinolysis. 2002 ; 13 ((5)). 423-431
    • (2002) Blood Coagul Fibrinolysis , vol.13 , Issue.5 , pp. 423-431
    • Domagala, T.B.1    Adamek, L.2    Nizankowska, E.3    Sanak, M.4    Szczeklik, A.5
  • 20
    • 33846899709 scopus 로고    scopus 로고
    • Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians
    • Naushad S, Jamal NJ, Angalena R, Prasad CK, Devi AR. Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians. Blood Coagul Fibrinolysis. 2007 ; 18 ((2)). 113-117
    • (2007) Blood Coagul Fibrinolysis , vol.18 , Issue.2 , pp. 113-117
    • Naushad, S.1    Jamal, N.J.2    Angalena, R.3    Prasad, C.K.4    Devi, A.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.