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Volumn 86, Issue 1-2, 2005, Pages 91-99

Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics

Author keywords

Factor V Leiden; MTHFR C677T; Population genetics; Prothrombin 20210A; Thrombophilia; Thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN; PROTHROMBIN 20210A; UNCLASSIFIED DRUG; VITAMIN;

EID: 26244460048     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.04.002     Document Type: Review
Times cited : (87)

References (84)
  • 1
    • 0034161456 scopus 로고    scopus 로고
    • Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease
    • D.A. Lane, and G.J. Grant Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease Blood 95 2000 1517 1532
    • (2000) Blood , vol.95 , pp. 1517-1532
    • Lane, D.A.1    Grant, G.J.2
  • 2
    • 0001627642 scopus 로고
    • Inherited antithrombin III deficiency causing thrombophilia
    • O. Egeberg Inherited antithrombin III deficiency causing thrombophilia Thromb. Diath. Haemorrh. 13 1965 516 530
    • (1965) Thromb. Diath. Haemorrh. , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 4
    • 0021741550 scopus 로고
    • Familial protein S deficiency is associated with recurrent thrombosis
    • P.C. Comp, R.R. Nixon, M.R. Cooper, and C.T. Esmon Familial protein S deficiency is associated with recurrent thrombosis J. Clin. Invest. 74 1984 2082 2088
    • (1984) J. Clin. Invest. , vol.74 , pp. 2082-2088
    • Comp, P.C.1    Nixon, R.R.2    Cooper, M.R.3    Esmon, C.T.4
  • 6
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C
    • B. Dahlbäck, M. Carlsson, and P. Svensson Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C Proc. Natl. Acad. Sci. USA 90 1993 1004 1008
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 1004-1008
    • Dahlbäck, B.1    Carlsson, M.2    Svensson, P.3
  • 7
    • 0028314865 scopus 로고
    • Mutation in blood coagulation factor V associated with resistance to activated protein C
    • R. Bertina, B. Koeleman, and T. Koster Mutation in blood coagulation factor V associated with resistance to activated protein C Nature 369 1994 64 67
    • (1994) Nature , vol.369 , pp. 64-67
    • Bertina, R.1    Koeleman, B.2    Koster, T.3
  • 8
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • S. Poort, F. Rosendaal, P. Reitsma, and R. Bertina A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis Blood 88 1996 3698 3703
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.1    Rosendaal, F.2    Reitsma, P.3    Bertina, R.4
  • 10
    • 0028814316 scopus 로고
    • Role of clotting factor VIII in effect on von Willebrand factor on occurrence of deep vein thrombosis
    • T. Koster, A.D. Blann, E. Briet, J.P. Vandenbroucke, and F.R. Rosendaal Role of clotting factor VIII in effect on von Willebrand factor on occurrence of deep vein thrombosis Lancet 345 1995 152 155
    • (1995) Lancet , vol.345 , pp. 152-155
    • Koster, T.1    Blann, A.D.2    Briet, E.3    Vandenbroucke, J.P.4    Rosendaal, F.R.5
  • 13
    • 0034892732 scopus 로고    scopus 로고
    • The relationship between ABO histo-blood group, factor VIII and von Willebrand factor
    • J. O'Donnell, and M.A. Laffan The relationship between ABO histo-blood group, factor VIII and von Willebrand factor Transfus. Med. 11 2001 343 351
    • (2001) Transfus. Med. , vol.11 , pp. 343-351
    • O'Donnell, J.1    Laffan, M.A.2
  • 15
    • 0035912152 scopus 로고    scopus 로고
    • Genetic susceptibility to venous thrombosis
    • U. Seligsohn, and A. Lubetsky Genetic susceptibility to venous thrombosis N. Engl. J. Med. 344 2001 1222 1231
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1222-1231
    • Seligsohn, U.1    Lubetsky, A.2
  • 16
    • 0030476647 scopus 로고    scopus 로고
    • The population genetics of factor V Leiden (Arg506Gln)
    • D.C. Rees The population genetics of factor V Leiden (Arg506Gln) Br. J. Haematol. 95 1996 579 586
    • (1996) Br. J. Haematol. , vol.95 , pp. 579-586
    • Rees, D.C.1
  • 17
    • 0032840589 scopus 로고    scopus 로고
    • Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors
    • T. Antoniadi, T. Hatzis, C. Kroupis, E. Economou-Petersen, and M. Petersen Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors Am. J. Hematol. 61 1999 265 267
    • (1999) Am. J. Hematol. , vol.61 , pp. 265-267
    • Antoniadi, T.1    Hatzis, T.2    Kroupis, C.3    Economou-Petersen, E.4    Petersen, M.5
  • 20
    • 0028931717 scopus 로고
    • High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance)
    • F.R. Rosendaal, T. Koster, J.P. Vandenbroucke, and P.H. Reitsma High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) Blood 85 1995 1504 1508
    • (1995) Blood , vol.85 , pp. 1504-1508
    • Rosendaal, F.R.1    Koster, T.2    Vandenbroucke, J.P.3    Reitsma, P.H.4
  • 21
    • 1442357145 scopus 로고    scopus 로고
    • Factor V Leiden and the risk for venous thromboembolism in the adult Danish population
    • K. Juul, A. Tybjaerg-Hansen, P. Schnohr, and B.G. Nordestgaard Factor V Leiden and the risk for venous thromboembolism in the adult Danish population Ann. Intern. Med. 140 2004 330 337
    • (2004) Ann. Intern. Med. , vol.140 , pp. 330-337
    • Juul, K.1    Tybjaerg-Hansen, A.2    Schnohr, P.3    Nordestgaard, B.G.4
  • 22
  • 23
    • 0000449738 scopus 로고    scopus 로고
    • Frequency of factor V Leiden (Arg506Gln)
    • G. Lucotte, and G. Mercier Frequency of factor V Leiden (Arg506Gln) Br. J. Haematol. 99 1997 237 241
    • (1997) Br. J. Haematol. , vol.99 , pp. 237-241
    • Lucotte, G.1    Mercier, G.2
  • 24
    • 0030695071 scopus 로고    scopus 로고
    • Activated Protein C (APC) resistance: Does it exist in the Basques?
    • F. Bauduer, L. Ducout, C. Guerre, and G. Freyburger Activated Protein C (APC) resistance: does it exist in the Basques? Br. J. Haematol. 99 1997 712 713
    • (1997) Br. J. Haematol. , vol.99 , pp. 712-713
    • Bauduer, F.1    Ducout, L.2    Guerre, C.3    Freyburger, G.4
  • 26
    • 0034849561 scopus 로고    scopus 로고
    • Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia
    • J.M. Soria, M. Baiget, L. Castano, M.I. Tejada, G. Perez-Nanclares, and J. Fontcuberta Genetic risk factors for thrombosis in a Basque population and their possible contribution to the analysis of a complex disease such as thrombophilia Haematologica 86 2001 889 890
    • (2001) Haematologica , vol.86 , pp. 889-890
    • Soria, J.M.1    Baiget, M.2    Castano, L.3    Tejada, M.I.4    Perez-Nanclares, G.5    Fontcuberta, J.6
  • 27
    • 4644227898 scopus 로고    scopus 로고
    • The prevalence of factor V G1691A in French Basques, but not of prothrombin G20210A and methylenetetrahydrofolate reductase C677T, is remarkably low
    • F. Bauduer, A. Zivelin, A. Degioanni, L. Ducout, O. Dutour, E. Shpringer, and U. Seligsohn The prevalence of factor V G1691A in French Basques, but not of prothrombin G20210A and methylenetetrahydrofolate reductase C677T, is remarkably low J. Thromb. Haemost. 2 2004 361 362
    • (2004) J. Thromb. Haemost. , vol.2 , pp. 361-362
    • Bauduer, F.1    Zivelin, A.2    Degioanni, A.3    Ducout, L.4    Dutour, O.5    Shpringer, E.6    Seligsohn, U.7
  • 30
    • 0037369905 scopus 로고    scopus 로고
    • Effect of the methylenetetrahydrofolate reductase 677 C → T mutation on the relation among folate intake and plasma folate and homocysteine concentration in a general population sample
    • A. De Bree, W.M.M. Verschuren, A.L. Bjorke-Monsen, N.M.J. van der Put, S.G. Heil, F.J.M. Trijbels, and H.J. Blom Effect of the methylenetetrahydrofolate reductase 677 C → T mutation on the relation among folate intake and plasma folate and homocysteine concentration in a general population sample Am. J. Clin. Nutr. 77 2003 687 693
    • (2003) Am. J. Clin. Nutr. , vol.77 , pp. 687-693
    • De Bree, A.1    Verschuren, W.M.M.2    Bjorke-Monsen, A.L.3    Van Der Put, N.M.J.4    Heil, S.G.5    Trijbels, F.J.M.6    Blom, H.J.7
  • 31
    • 0030610090 scopus 로고    scopus 로고
    • The mutation Ala677 → Val in the methylenetrahydrofolate reductase gene: A risk factor for arterial disease and venous thrombosis
    • V.R. Arruda, P.M. von Zuben, L.C. Chiaparini, J.M. Annichino-Bizzacchi, and F.F. Costa The mutation Ala677 → Val in the methylenetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis Thromb. Haemost. 77 1997 818 821
    • (1997) Thromb. Haemost. , vol.77 , pp. 818-821
    • Arruda, V.R.1    Von Zuben, P.M.2    Chiaparini, L.C.3    Annichino-Bizzacchi, J.M.4    Costa, F.F.5
  • 32
    • 0037633079 scopus 로고    scopus 로고
    • Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: Meta-analysis of 31 studies
    • J.G. Ray, D. Shmorgun, and W.S. Chan Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: meta-analysis of 31 studies Pathophysiol. Haemost. Thromb. 32 2002 51 58
    • (2002) Pathophysiol. Haemost. Thromb. , vol.32 , pp. 51-58
    • Ray, J.G.1    Shmorgun, D.2    Chan, W.S.3
  • 33
    • 0037164375 scopus 로고    scopus 로고
    • Homocysteine and cardiovascular disease: Evidence on causality from a meta-analysis
    • D.S. Wald, M. Law, and J.K. Morris Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis BMJ 325 2002 1202 2108
    • (2002) BMJ , vol.325 , pp. 1202-2108
    • Wald, D.S.1    Law, M.2    Morris, J.K.3
  • 34
    • 0037373178 scopus 로고    scopus 로고
    • Serum homocysteine, thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE)
    • A.W. Tsai, M. Cushman, M.Y. Tsai, S.R. Heckbert, W.D. Rosamond, N. Aleksic, N.D. Yanez, B.M. Psaty, and A.R. Folsom Serum homocysteine, thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE) Am. J. Hematol. 72 2003 192 200
    • (2003) Am. J. Hematol. , vol.72 , pp. 192-200
    • Tsai, A.W.1    Cushman, M.2    Tsai, M.Y.3    Heckbert, S.R.4    Rosamond, W.D.5    Aleksic, N.6    Yanez, N.D.7    Psaty, B.M.8    Folsom, A.R.9
  • 36
    • 0036178211 scopus 로고    scopus 로고
    • The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in Whites, Japanese, and Africans
    • N. Rosenberg, M. Murata, Y. Ikeda, O. Opare-Sem, A. Zivelin, E. Geffen, and U. Seligsohn The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in Whites, Japanese, and Africans Am. J. Hum. Genet. 70 2002 758 762
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 758-762
    • Rosenberg, N.1    Murata, M.2    Ikeda, Y.3    Opare-Sem, O.4    Zivelin, A.5    Geffen, E.6    Seligsohn, U.7
  • 38
    • 0032941095 scopus 로고    scopus 로고
    • Cobalamine and folate deficiency: Acquired and hereditary disorders in children
    • D.S. Rosenblatt, and V.M. Whitehead Cobalamine and folate deficiency: acquired and hereditary disorders in children Semin. Hematol. 36 1999 19 34
    • (1999) Semin. Hematol. , vol.36 , pp. 19-34
    • Rosenblatt, D.S.1    Whitehead, V.M.2
  • 39
    • 0033539096 scopus 로고    scopus 로고
    • The risk of recurrent deep venous thrombosis among heterozygotes carriers of both factor V Leiden and the G20210A prothrombin mutation
    • V. DeStefano, I. Martinelli, P.M. Mannucci, K. Paciaroni, P. Chiusolo, I. Casorelli, E. Rossi, and G. Leone The risk of recurrent deep venous thrombosis among heterozygotes carriers of both factor V Leiden and the G20210A prothrombin mutation N. Engl. J. Med. 341 1999 801 806
    • (1999) N. Engl. J. Med. , vol.341 , pp. 801-806
    • Destefano, V.1    Martinelli, I.2    Mannucci, P.M.3    Paciaroni, K.4    Chiusolo, P.5    Casorelli, I.6    Rossi, E.7    Leone, G.8
  • 40
    • 0034487766 scopus 로고    scopus 로고
    • The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both
    • I. Martinelli, P. Bucciarelli, M. Margaglione, V. De Stefano, G. Castaman, and P.M. Mannucci The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both Br. J. Haematol. 111 2000 1223 1229
    • (2000) Br. J. Haematol. , vol.111 , pp. 1223-1229
    • Martinelli, I.1    Bucciarelli, P.2    Margaglione, M.3    De Stefano, V.4    Castaman, G.5    Mannucci, P.M.6
  • 41
    • 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)
    • M. Cattaneo, M.Y. Tsai, P. Bucciarelli, E. Taioli, M.L. Zighetti, M. Bignell, and P.M. Mannucci 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. 17 1997 1662 1666
    • (1997) Arterioscler. Thromb. Vasc. Biol. , vol.17 , pp. 1662-1666
    • Cattaneo, M.1    Tsai, M.Y.2    Bucciarelli, P.3    Taioli, E.4    Zighetti, M.L.5    Bignell, M.6    Mannucci, P.M.7
  • 42
    • 0030953866 scopus 로고    scopus 로고
    • Interrelation of hyperhomocysteinemia, factor V Leiden and risk of future venous thromboembolism
    • P.M. Ridker, C.H. Hennekens, J. Selhub, J.P. Miletich, M.R. Malinow, and M.J. Stampfer Interrelation of hyperhomocysteinemia, factor V Leiden and risk of future venous thromboembolism Circulation 95 1997 1777 1782
    • (1997) Circulation , vol.95 , pp. 1777-1782
    • Ridker, P.M.1    Hennekens, C.H.2    Selhub, J.3    Miletich, J.P.4    Malinow, M.R.5    Stampfer, M.J.6
  • 43
    • 0032824284 scopus 로고    scopus 로고
    • Prevalence of mild hyperhomocysteinemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease
    • V. De Stefano, B. Zappacosta, S. Persichilli, E. Rossi, I. Casorelli, K. Paciaroni, P. Chiusolo, A.M. Leone, B. Giardina, and G. Leone Prevalence of mild hyperhomocysteinemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease Br. J. Haematol. 106 1999 564 568
    • (1999) Br. J. Haematol. , vol.106 , pp. 564-568
    • De Stefano, V.1    Zappacosta, B.2    Persichilli, S.3    Rossi, E.4    Casorelli, I.5    Paciaroni, K.6    Chiusolo, P.7    Leone, A.M.8    Giardina, B.9    Leone, G.10
  • 44
    • 0033017739 scopus 로고    scopus 로고
    • Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism. Prevalence and risk assessment
    • O. Salomon, D.M. Steinberg, and A. Zivelin Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism. Prevalence and risk assessment Arterioscler. Thromb. Vasc. Biol. 19 1999 511 518
    • (1999) Arterioscler. Thromb. Vasc. Biol. , vol.19 , pp. 511-518
    • Salomon, O.1    Steinberg, D.M.2    Zivelin, A.3
  • 48
    • 0034965498 scopus 로고    scopus 로고
    • Population genetics of factor V Leiden in Europe
    • G. Lucotte, and G. Mercier Population genetics of factor V Leiden in Europe Blood Cells Mol. Dis. 27 2001 362 367
    • (2001) Blood Cells Mol. Dis. , vol.27 , pp. 362-367
    • Lucotte, G.1    Mercier, G.2
  • 49
    • 0028810738 scopus 로고
    • World distribution of factor V Leiden
    • D.C. Rees, M. Cox, and J.B. Clegg World distribution of factor V Leiden Lancet 346 1995 1133 1134
    • (1995) Lancet , vol.346 , pp. 1133-1134
    • Rees, D.C.1    Cox, M.2    Clegg, J.B.3
  • 51
    • 0030938481 scopus 로고    scopus 로고
    • V677 mutation of methylenetetrahydrofolate reductase and cardiovascular disease in Canadian Inuits
    • R.A. Hegele, C. Tully, T.K. Young, and P.W. Connelly V677 mutation of methylenetetrahydrofolate reductase and cardiovascular disease in Canadian Inuits Lancet 349 1997 1221 1222
    • (1997) Lancet , vol.349 , pp. 1221-1222
    • Hegele, R.A.1    Tully, C.2    Young, T.K.3    Connelly, P.W.4
  • 54
    • 0041919501 scopus 로고    scopus 로고
    • DNA polymorphisms detect ancient barriers to gene flow in Basques
    • M. Iriondo, M.C. Barbero, and C. Manzano DNA polymorphisms detect ancient barriers to gene flow in Basques Am. J. Phys. Anthropol. 122 2003 73 84
    • (2003) Am. J. Phys. Anthropol. , vol.122 , pp. 73-84
    • Iriondo, M.1    Barbero, M.C.2    Manzano, C.3
  • 55
    • 0031594157 scopus 로고    scopus 로고
    • Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss-a possible evolutionary selection mechanism
    • P.G. Lindqvist, P.J. Svensson, B. Dahlbäck, and K. Marsal Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss-a possible evolutionary selection mechanism Thromb. Haemost. 79 1998 69 73
    • (1998) Thromb. Haemost. , vol.79 , pp. 69-73
    • Lindqvist, P.G.1    Svensson, P.J.2    Dahlbäck, B.3    Marsal, K.4
  • 56
    • 0035874495 scopus 로고    scopus 로고
    • Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage
    • J. Corral, J.A. Iniesta, R. Gonzalez-Conejero, M. Villalon, and V. Vicente Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage Blood 97 2001 2979 2982
    • (2001) Blood , vol.97 , pp. 2979-2982
    • Corral, J.1    Iniesta, J.A.2    Gonzalez-Conejero, R.3    Villalon, M.4    Vicente, V.5
  • 58
    • 0037465345 scopus 로고    scopus 로고
    • Factor V Leiden protects against blood loss and transfusion after cardiac surgery
    • B.S. Donahue, D. Gailani, M.S. Higgins, D.C. Drinkwater, and A.L. George Factor V Leiden protects against blood loss and transfusion after cardiac surgery Circulation 107 2003 1003 1008
    • (2003) Circulation , vol.107 , pp. 1003-1008
    • Donahue, B.S.1    Gailani, D.2    Higgins, M.S.3    Drinkwater, D.C.4    George, A.L.5
  • 59
    • 0142245617 scopus 로고    scopus 로고
    • Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia
    • B.A. Kerlin, S.B. Yan, and B.H. Iserman Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia Blood 102 2003 3085 3092
    • (2003) Blood , vol.102 , pp. 3085-3092
    • Kerlin, B.A.1    Yan, S.B.2    Iserman, B.H.3
  • 61
    • 0037443934 scopus 로고    scopus 로고
    • Thrombophilic disorders and fetal loss: A meta-analysis
    • E. Rey, S.R. Kahn, M. David, and I. Shrier Thrombophilic disorders and fetal loss: a meta-analysis Lancet 361 2003 901 908
    • (2003) Lancet , vol.361 , pp. 901-908
    • Rey, E.1    Kahn, S.R.2    David, M.3    Shrier, I.4
  • 62
    • 0035856250 scopus 로고    scopus 로고
    • Selection pressure for the factor V Leiden mutation and embryo implantation
    • W. Göpel, M. Ludwig, A.K. Junge, T. Kohlmann, K. Diedrich, and J. Möller Selection pressure for the factor V Leiden mutation and embryo implantation Lancet 358 2001 1238 1239
    • (2001) Lancet , vol.358 , pp. 1238-1239
    • Göpel, W.1    Ludwig, M.2    Junge, A.K.3    Kohlmann, T.4    Diedrich, K.5    Möller, J.6
  • 65
    • 0343471524 scopus 로고    scopus 로고
    • Genetic risk factor for unexplained recurrent early pregnancy loss
    • W.L. Nelen, E.A. Steegers, T.K. Eskes, and H.J. Blom Genetic risk factor for unexplained recurrent early pregnancy loss Lancet 350 1997 861
    • (1997) Lancet , vol.350 , pp. 861
    • Nelen, W.L.1    Steegers, E.A.2    Eskes, T.K.3    Blom, H.J.4
  • 66
    • 0029655527 scopus 로고    scopus 로고
    • Nutritional ecogenetics: Homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid
    • A.G. Motulsky Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid Am. J. Hum. Genet. 58 1996 17 20
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 17-20
    • Motulsky, A.G.1
  • 67
    • 0033794925 scopus 로고    scopus 로고
    • Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: An examination of C677T and A1298C mutations
    • P.A. Isotalo, G.A. Wells, and J.G. Donnelly Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations Am. J. Hum. Genet. 67 2000 986 990
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 986-990
    • Isotalo, P.A.1    Wells, G.A.2    Donnelly, J.G.3
  • 68
    • 84968034615 scopus 로고
    • Varicose veins, deep vein thrombosis, and hemorrhoids: Epidemiology and suggested aetiology
    • D.P. Burkitt Varicose veins, deep vein thrombosis, and hemorrhoids: epidemiology and suggested aetiology BMJ 2 1972 556 561
    • (1972) BMJ , vol.2 , pp. 556-561
    • Burkitt, D.P.1
  • 69
    • 1642324210 scopus 로고    scopus 로고
    • Pulmonary thromboembolism in Asians/Pacific Islanders in the United states: Analysis of data from the National Hospital Discharge Survey and the United States Bureau of the Census
    • P.D. Stein, F. Kayali, R.E. Olson, and C.E. Milford Pulmonary thromboembolism in Asians/Pacific Islanders in the United states: analysis of data from the National Hospital Discharge Survey and the United States Bureau of the Census Am. J. Med. 116 2004 435 442
    • (2004) Am. J. Med. , vol.116 , pp. 435-442
    • Stein, P.D.1    Kayali, F.2    Olson, R.E.3    Milford, C.E.4
  • 70
    • 0242575182 scopus 로고    scopus 로고
    • Risk factors for venous thrombosis in the black population
    • R.K. Patel, E. Ford, J. Thumpston, and R. Arya Risk factors for venous thrombosis in the black population Thromb. Haemost. 90 2003 835 838
    • (2003) Thromb. Haemost. , vol.90 , pp. 835-838
    • Patel, R.K.1    Ford, E.2    Thumpston, J.3    Arya, R.4
  • 71
    • 2342536397 scopus 로고    scopus 로고
    • Is there a "basque" profile regarding autosomal recessive deficiencies of coagulation factors
    • F. Bauduer, L. Ducout, A. Degioanni, and O. Dutour Is there a "Basque" profile regarding autosomal recessive deficiencies of coagulation factors Haemophilia 10 2004 276 279
    • (2004) Haemophilia , vol.10 , pp. 276-279
    • Bauduer, F.1    Ducout, L.2    Degioanni, A.3    Dutour, O.4
  • 73
    • 0032784518 scopus 로고    scopus 로고
    • Factor XI deficiency in the French Basque Country
    • F. Bauduer, F. Dupreuilh, L. Ducout, and B. Marti Factor XI deficiency in the French Basque Country Haemophilia 5 1999 187 190
    • (1999) Haemophilia , vol.5 , pp. 187-190
    • Bauduer, F.1    Dupreuilh, F.2    Ducout, L.3    Marti, B.4
  • 74
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in Basques is predominantly caused by an ancestral C38R mutation in the factor XI gene
    • A. Zivelin, F. Bauduer, L. Ducout, H. Peretz, N. Rosenberg, R. Yatuv, and U. Seligsohn Factor XI deficiency in Basques is predominantly caused by an ancestral C38R mutation in the factor XI gene Blood 99 2002 2448 2454
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3    Peretz, H.4    Rosenberg, N.5    Yatuv, R.6    Seligsohn, U.7
  • 76
    • 0031302336 scopus 로고    scopus 로고
    • Frequency of factor V (1691 G → A) mutation in Turkish population
    • N. Akar, E. Akar, G. Dalgin, A. Sozuoz, K. Omurlu, and S. Cin Frequency of factor V (1691 G → A) mutation in Turkish population Thromb. Haemost. 78 1997 1527 1529
    • (1997) Thromb. Haemost. , vol.78 , pp. 1527-1529
    • Akar, N.1    Akar, E.2    Dalgin, G.3    Sozuoz, A.4    Omurlu, K.5    Cin, S.6
  • 77
    • 0001503137 scopus 로고
    • Polymorphisms of fibrinogen, factor VIII and factor V genes. Comparison of allele frequencies in different ethnic group
    • C. Ferrer-Antunes, A. Palmeiro, and F. Green Polymorphisms of fibrinogen, factor VIII and factor V genes. Comparison of allele frequencies in different ethnic group Thromb. Haemost. 73 1995 1834
    • (1995) Thromb. Haemost. , vol.73 , pp. 1834
    • Ferrer-Antunes, C.1    Palmeiro, A.2    Green, F.3
  • 78
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • L.D. Botto, and Q. Yang 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review Am. J. Epidemiol. 151 2000 862 877
    • (2000) Am. J. Epidemiol. , vol.151 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 79
    • 2642701740 scopus 로고    scopus 로고
    • Analysis of the 677C → T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups
    • R.F. Franco, A.G. Araujo, J.F. Guerreiro, J. Elion, and M.A. Zago Analysis of the 677C → T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups Thromb. Haemost. 79 1998 119 121
    • (1998) Thromb. Haemost. , vol.79 , pp. 119-121
    • Franco, R.F.1    Araujo, A.G.2    Guerreiro, J.F.3    Elion, J.4    Zago, M.A.5
  • 80
    • 0029975240 scopus 로고    scopus 로고
    • Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction
    • M. Adams, P.D. Smith, D. Martin, J.R. Thompson, D. Lodwick, and N.J. Samani Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction Q. J. Med. 89 1996 437 444
    • (1996) Q. J. Med. , vol.89 , pp. 437-444
    • Adams, M.1    Smith, P.D.2    Martin, D.3    Thompson, J.R.4    Lodwick, D.5    Samani, N.J.6
  • 82
    • 0033286988 scopus 로고    scopus 로고
    • C677T mutation of the methylenetetrahydrofolate reductase gene among the Korean infants in Seoul city
    • M. Zuo, M.J. Lee, M.H. Kim, Y. Wu, H. Ayaki, H. Nishio, and K. Sumino C677T mutation of the methylenetetrahydrofolate reductase gene among the Korean infants in Seoul city Kobe J. Med. Sci. 45 1999 271 279
    • (1999) Kobe J. Med. Sci. , vol.45 , pp. 271-279
    • Zuo, M.1    Lee, M.J.2    Kim, M.H.3    Wu, Y.4    Ayaki, H.5    Nishio, H.6    Sumino, K.7
  • 83
    • 0030844717 scopus 로고    scopus 로고
    • The VITA project: C677T mutation in the methylenetetrahydrofolate reductase gene and risk of venous thromboembolism
    • A. Tosetto, E. Missiglia, M. Frezzato, and F. Rodeghiero The VITA project: C677T mutation in the methylenetetrahydrofolate reductase gene and risk of venous thromboembolism Br. J. Haematol. 97 1997 804 806
    • (1997) Br. J. Haematol. , vol.97 , pp. 804-806
    • Tosetto, A.1    Missiglia, E.2    Frezzato, M.3    Rodeghiero, F.4
  • 84
    • 0343503018 scopus 로고    scopus 로고
    • High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: A country with a high prevalence of neural defects
    • O.M. Mutchinick, M.A. Lopez, L. Luna, J. Waxman, and V.E. Babinsky High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a high prevalence of neural defects Mol. Genet. Metab. 68 1999 461 467
    • (1999) Mol. Genet. Metab. , vol.68 , pp. 461-467
    • Mutchinick, O.M.1    Lopez, M.A.2    Luna, L.3    Waxman, J.4    Babinsky, V.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.