메뉴 건너뛰기




Volumn 129, Issue 9, 1999, Pages 1656-1661

A common mutation A1298C in human methylenetetrahydrofolate reductase gene: Association with plasma total homocysteine and folate concentrations

Author keywords

Folate; Homocysteine; Humans; Methylenetetrahydrofolate reductase mutation

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID; HOMOCYSTEINE;

EID: 0032865186     PISSN: 00223166     EISSN: None     Source Type: Journal    
DOI: 10.1093/jn/129.9.1656     Document Type: Article
Times cited : (231)

References (40)
  • 1
    • 0031969688 scopus 로고    scopus 로고
    • The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD)
    • Abbate, R., Sardi, L., Pepe, G., Marcucci, R., Brunelli, T., Prisco, T., Prisco, D., Fatini, C., Capanni, M., Simonetti, L. & Gersini, F. G. (1998) The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD). Thromb. Haemost. 79: 727-730.
    • (1998) Thromb. Haemost. , vol.79 , pp. 727-730
    • Abbate, R.1    Sardi, L.2    Pepe, G.3    Marcucci, R.4    Brunelli, T.5    Prisco, T.6    Prisco, D.7    Fatini, C.8    Capanni, M.9    Simonetti, L.10    Gersini, F.G.11
  • 2
    • 0023628783 scopus 로고
    • Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection
    • Araki, A. & Sako, Y. (1987) Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J. Chromatogr. 422: 43-52.
    • (1987) J. Chromatogr. , vol.422 , pp. 43-52
    • Araki, A.1    Sako, Y.2
  • 3
    • 0030610090 scopus 로고    scopus 로고
    • The mutation ala677val in the methylenetetrahydrofolate reductase gene: A risk factor for arterial disease and venous thrombosis
    • Arruda, V. R., von Zuben, P. M., Chiparini, L. C., Annichino-Bizzacchi, J. M. & Costa, F. F. (1997) The mutation ala677val in the methylenetetrahydrofolate reductase gene: A risk factor for arterial disease and venous thrombosis. Thomb. Haemost. 77: 818-821.
    • (1997) Thomb. Haemost. , vol.77 , pp. 818-821
    • Arruda, V.R.1    Von Zuben, P.M.2    Chiparini, L.C.3    Annichino-Bizzacchi, J.M.4    Costa, F.F.5
  • 4
    • 0030879427 scopus 로고    scopus 로고
    • Hyperhomocysteinaemia and associated disease
    • Bakker, R. C. & Brandjes, D. P. (1997) Hyperhomocysteinaemia and associated disease. Phan. World. Sci. 19: 126-132.
    • (1997) Phan. World. Sci. , vol.19 , pp. 126-132
    • Bakker, R.C.1    Brandjes, D.P.2
  • 5
    • 0002130435 scopus 로고
    • Serum glucose and insulin characteristics and prevalence of diabetes mellitus and impaired glucose tolerance in the adult Jewish population of Jerusalem
    • Bar-On, H., Friedlander, Y., Kidron, M. & Kark, J. D. (1992) Serum glucose and insulin characteristics and prevalence of diabetes mellitus and impaired glucose tolerance in the adult Jewish population of Jerusalem. Nutr. Metab. Cardiovasc. Dis. 2: 75-78.
    • (1992) Nutr. Metab. Cardiovasc. Dis. , vol.2 , pp. 75-78
    • Bar-On, H.1    Friedlander, Y.2    Kidron, M.3    Kark, J.D.4
  • 8
    • 0030971062 scopus 로고    scopus 로고
    • Homocysteine and thrombotic disease
    • D'Angelo, A. & Selhub, J. (1997) Homocysteine and thrombotic disease. Blood 90: 1-11.
    • (1997) Blood , vol.90 , pp. 1-11
    • D'Angelo, A.1    Selhub, J.2
  • 11
    • 0002855881 scopus 로고
    • Inherited disorders of cobalamin transport and metabolism
    • (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), McGraw-Hill, New York, NY
    • Fenton, W. A. & Rosenberg, L. E. (1989) Inherited disorders of cobalamin transport and metabolism. In: The Metabolic Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), p. 2065. McGraw-Hill, New York, NY.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 2065
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 13
    • 0028834216 scopus 로고
    • Evidence that homocysteine is an independent risk factor for atherosclerosis in hyperlipidemic patients
    • Glueck, C. J., Shaw, P., Lang, J. E., Tracy, T., Sieve-Smith, L. & Wang, Y. (1995) Evidence that homocysteine is an independent risk factor for atherosclerosis in hyperlipidemic patients. Am. J. Cardiol. 75: 132-136.
    • (1995) Am. J. Cardiol. , vol.75 , pp. 132-136
    • Glueck, C.J.1    Shaw, P.2    Lang, J.E.3    Tracy, T.4    Sieve-Smith, L.5    Wang, Y.6
  • 14
    • 0020055946 scopus 로고
    • Effect of homocysteine on platelet and vascular arachidonic acid metabolism
    • Graeber, J. E., Slott, H. J., Ulane, R. E., Schulman, J. D. & Stuart, M. J. (1982) Effect of homocysteine on platelet and vascular arachidonic acid metabolism. Pediatr. Res. 16: 490-493.
    • (1982) Pediatr. Res. , vol.16 , pp. 490-493
    • Graeber, J.E.1    Slott, H.J.2    Ulane, R.E.3    Schulman, J.D.4    Stuart, M.J.5
  • 15
    • 37049251476 scopus 로고
    • Mendelian proportions in a mixed population
    • Hardy, G. H. (1908) Mendelian proportions in a mixed population. Science 28: 9-50.
    • (1908) Science , vol.28 , pp. 9-50
    • Hardy, G.H.1
  • 17
    • 0023664723 scopus 로고
    • The role of sulfur containing amino acids in superoxide production and modification of low density lipoprotein by arterial smooth muscle cells
    • Heinecke, J. W., Rosen, H., Suzuki, L. A. & Chait, A. (1987) The role of sulfur containing amino acids in superoxide production and modification of low density lipoprotein by arterial smooth muscle cells. J. Biol. Chem. 262: 10098-10103.
    • (1987) J. Biol. Chem. , vol.262 , pp. 10098-10103
    • Heinecke, J.W.1    Rosen, H.2    Suzuki, L.A.3    Chait, A.4
  • 18
    • 0030027668 scopus 로고    scopus 로고
    • Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
    • Jacques, P. F., Bostom, A. G., Williams, R. G., Ellison, R. C., Eckfeldt, J. H., Rosenberg, I. H., Selhub, J. & Rozen, R. (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93: 7-9.
    • (1996) Circulation , vol.93 , pp. 7-9
    • Jacques, P.F.1    Bostom, A.G.2    Williams, R.G.3    Ellison, R.C.4    Eckfeldt, J.H.5    Rosenberg, I.H.6    Selhub, J.7    Rozen, R.8
  • 19
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang, S. S., Wong, P.W.K., Susmano, A., Sora, J., Norusis, M. & Russie, N. (1991) Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease. Am. J. Hum. Genet. 48: 536-545.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 536-545
    • Kang, S.S.1    Wong, P.W.K.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Russie, N.6
  • 22
    • 0023219175 scopus 로고
    • Homocysteine thiolactone, N-homocysteine thiolactonyl retinamide, and platelet aggregation
    • McCully, K. S. & Carvalho, A. C. (1987) Homocysteine thiolactone, N-homocysteine thiolactonyl retinamide, and platelet aggregation. Res. Commun. Chem. Pathol. Pharmacol. 56: 349-360.
    • (1987) Res. Commun. Chem. Pathol. Pharmacol. , vol.56 , pp. 349-360
    • McCully, K.S.1    Carvalho, A.C.2
  • 23
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • abs.
    • Miller, S. A., Dydes, D. D. & Polesky, H. F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Rec. 16: 1215 (abs.).
    • (1988) Nucleic Acids Rec. , vol.16 , pp. 1215
    • Miller, S.A.1    Dydes, D.D.2    Polesky, H.F.3
  • 24
    • 0000363006 scopus 로고
    • Disorders of transsulfuration
    • (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), McGraw-Hill, New York, NY
    • Mudd, S. H., Levy, H. L. & Skovby, F. (1989) Disorders of transsulfuration. In: The Metabolic Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), pp. 693-734. McGraw-Hill, New York, NY.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 693-734
    • Mudd, S.H.1    Levy, H.L.2    Skovby, F.3
  • 27
    • 0031828880 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages
    • Nelen, W. L., Blom, H. J., Thomas, C. M., Steegers, E. A., Boers, G. H. & Eskes, T. K. (1998) Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J. Nutr. 128: 1336-1341.
    • (1998) J. Nutr. , vol.128 , pp. 1336-1341
    • Nelen, W.L.1    Blom, H.J.2    Thomas, C.M.3    Steegers, E.A.4    Boers, G.H.5    Eskes, T.K.6
  • 28
    • 0023094333 scopus 로고
    • Oxidation of low density lipoproteins by thiol compounds leads to its recognition by the acetyl LDL receptor
    • Parthasarathy, S. (1987) Oxidation of low density lipoproteins by thiol compounds leads to its recognition by the acetyl LDL receptor. Biochim. Biophys. Acta. 917: 337-340.
    • (1987) Biochim. Biophys. Acta. , vol.917 , pp. 337-340
    • Parthasarathy, S.1
  • 29
    • 0025190042 scopus 로고
    • Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells
    • Rodgers, G. M. & Conn, M. T. (1990) Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells. Blood 75: 895-901.
    • (1990) Blood , vol.75 , pp. 895-901
    • Rodgers, G.M.1    Conn, M.T.2
  • 30
    • 0000443712 scopus 로고
    • Inherited disorders of folate transport and metabolism
    • (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), McGraw-Hill, New York, NY
    • Rosenblatt, D. S. (1995) Inherited disorders of folate transport and metabolism. In: The Metabolic and Molecular Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., eds.), pp. 3111-3128. McGraw-Hill, New York, NY.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 3111-3128
    • Rosenblatt, D.S.1
  • 32
    • 0022552919 scopus 로고
    • Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine
    • Starkenbaum, G. & Harlan, J. M. (1986) Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine. J. Clin. Invest. 77: 1370-1376.
    • (1986) J. Clin. Invest. , vol.77 , pp. 1370-1376
    • Starkenbaum, G.1    Harlan, J.M.2
  • 33
    • 0025242013 scopus 로고
    • Inhibition by EDTA of growth of lacto-bacillus casei in the folate microbiological assay and its reversal by added manganese or iron
    • abs.
    • Tamura, T., Freeberg, L. E. & Cornwell, P. E. (1990) Inhibition by EDTA of growth of lacto-bacillus casei in the folate microbiological assay and its reversal by added manganese or iron. Clin. Chem. 36: 1993 (abs.).
    • (1990) Clin. Chem. , vol.36 , pp. 1993
    • Tamura, T.1    Freeberg, L.E.2    Cornwell, P.E.3
  • 36
    • 0030612756 scopus 로고    scopus 로고
    • The 677C→T mutation in themethylenetetrahydrofolate reductase gene: Associations with plasma total homocyeine levels and risk of coronary atherosclerotic disease
    • Verhoef, P., Kok F. J., Klluijtmans L. A., Blom, H. J., Refsum, H., Ueland, P. M. & Kruyssen, D. A. (1997) The 677C→T mutation in themethylenetetrahydrofolate reductase gene: Associations with plasma total homocyeine levels and risk of coronary atherosclerotic disease. Atherosclerosis 132: 105-113.
    • (1997) Atherosclerosis , vol.132 , pp. 105-113
    • Verhoef, P.1    Kok, F.J.2    Klluijtmans, L.A.3    Blom, H.J.4    Refsum, H.5    Ueland, P.M.6    Kruyssen, D.A.7
  • 37
    • 18144447640 scopus 로고    scopus 로고
    • The effect of a common methylenetetrahydrolate reductase mutation on levels of homocysteine, folate, vitamin B12 and on the risk of premature atherosclerosis
    • Verhoeff, B. J., Trip, M. D., Prins, M. H., Kastelein, J.J.P. & Reitsma, P. H. (1998) The effect of a common methylenetetrahydrolate reductase mutation on levels of homocysteine, folate, vitamin B12 and on the risk of premature atherosclerosis. Atherosclerosis 141: 161-166.
    • (1998) Atherosclerosis , vol.141 , pp. 161-166
    • Verhoeff, B.J.1    Trip, M.D.2    Prins, M.H.3    Kastelein, J.J.P.4    Reitsma, P.H.5
  • 38
    • 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. (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Molec. Genet. Metabolism. 64: 169-172.
    • (1998) Molec. Genet. Metabolism , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 39
    • 0032499024 scopus 로고    scopus 로고
    • Homocysteine and atherothrombosis
    • Welch, G. N. & Loscalzo, J. (1998) Homocysteine and atherothrombosis. N. Engl. J. Med. 338: 1042-1050.
    • (1998) N. Engl. J. Med. , vol.338 , pp. 1042-1050
    • Welch, G.N.1    Loscalzo, J.2
  • 40
    • 0030057401 scopus 로고    scopus 로고
    • Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation
    • Wilcken, D.E.L., Wang, X. L., Sim, A. S. & McCredie, M. (1996) Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler. Thromb. Vasc. Biol. 16: 878-882.
    • (1996) Arterioscler. Thromb. Vasc. Biol. , vol.16 , pp. 878-882
    • Wilcken, D.E.L.1    Wang, X.L.2    Sim, A.S.3    McCredie, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.