Thrombosis and Haemostasis, Inhaltsverzeichnis Thromb Haemost 1997; 78(01): 523-526DOI: 10.1055/s-0038-1657581 Hyperhomocysteinemia and thrombosis Schattauer GmbH Stuttgart Genetic Predisposition to Hyperhomocysteinemia: Deficiency of Methylenetetrahydrofolate Reductase (MTHFR) Rima Rozen FCCMG, Departments of Human Genetics, Pediatrics & Biology, McGill University, Montreal Children’s Hospital, Montreal, Quebec, Canada › Institutsangaben Artikel empfehlen Abstract als PDF herunterladen Artikel einzeln kaufen PDF (806 kb) Referenzen References 1 Boushey C, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA 274 1995; 1049-1057 2 Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics 10 1995; 111-113 3 van der Put NMJ, Steegers-Theunissen RPM, Frosst P, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Mariman ECM, den Heyer M, Rozen R, Blom HJ. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346: 1070-1071 4 Ma J, Stampfer MJ, Hennekens CH, Frosst P, Selhub J, Horsford J, Malinow MR, Willett WC, Rozen R. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in U.S. physicians. Circulation 94 1996; 2410-2416 5 Goyette P, Sumner JS, Milos R, Duncan AMV, Rosenblatt DS, Matthews RG, Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nature Genet 07 1994; 195-200 6 Matthews EG, Vanoni MA, Hainfeld JF, Wall J. Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis. J Biol Chem 1984; 259: 11647-11650 7 Frosst P, Zhang Z-X, Pai A, and Rozen R. The methylenetetrahydrofolate reductase (MTHFR) gene maps to distal mouse chromosome 4. Mammalian Genome 07 1996; 864-865 8 Goyette P, Pai A, Milos R, Rozen R. Genomic structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Am J Hum Genet 1995; 57 S A813 9 Mudd SH, Levy HL, Skovby B. Disorders of transsulfuration. In: Seriver CR, Beaudet AL, Sly WS, Valle D. (eds) ‘The metabolic and molecular bases of inherited disease” 7th edition. New York, McGraw-Hill: 1995. pp 1279-1327 10 Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D. (eds) “The metabolic and molecular bases of inherited disease” 7th edition. New York, McGraw-Hill: 1995. pp. 3111-3128 11 Goyette P, Frosst P, Rosenblatt DS, Rozen R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe MTHFR deficiency. Am. J. Hum. Genet 56 1995; 1052-1059 12 Goyette P, Christensen B, Rosenblatt DS, Rozen R. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of 5 novel mutations in MTHFR. Am. J. Hum. Genet 59 1996; 1268-1275 13 Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U. Coexistence of hereditary homocystinuria and Factor V Leiden - effect on thrombosis. N Engl J Med 334 1996; 763-768 14 Kang SS, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary disease. Am. J Hum Genet 48 1991; 536-545 15 Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels FJM, Blom HJ. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56 1995; 142-150 16 Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93 1996; 7-9 17 Kluijtmans LAJ, van den Heuvel LP, Boers GHJ, Frosst P, Stevens EMB, van Oost BA, den Heijer M, Trijbels FJM, Rozen R, Blom HJ. Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 3541 18 Christensen B, Frosst P, Lussier-Cacan S, Selhub J, Goyette P, Rosenblatt DS, Genest Jr J, Rozen R. Correlation of a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine in patients with premature coronary artery disease. ArteriosclerThromb Vase Biol. in press 19 Harmon DL, Woodside JV, Yarnell JWG, McMaster D, Young IS, McCrum EE, Gey KF, Whitehead AS, Evans AE. The common ‘thermolabile’ variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia. QJ Med 89 1996; 571-577 20 Guttormsen AB, Ueland PM, Nesthus I, Nygard O, Schneede J, Vollset SE, Refsum H. Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (m 40 μmol/ liter). J Clin Invest 98 1996; 2174-2183 21 Gallagher PM, Meleady R, Shields DC, Tan KS, McMaster D, Rozen R, Evans A, Graham IM, Whitehead AS. Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation 94 1996; 2154-2158 22 De Franchis R, Mancini FP, D’Angelo A, Sebastio G, Fermo I, De Stefano R, Margaglione M, Mazzola G, Di Minno G, Andria G. Elevated total plasma homocysteine and 677CdT mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Genet 59 1996; 262-264 23 Izumi M, Iwai N, Ohmichi N, Nakamura Y, Shimoike H, Kinoshita M. Molecular variant of 5,10-methylenetetrahydrofolate reductase is a risk factor of ischemic heart disease in the Japanese population. Atherosclerosis 121 1996; 293-294 24 Stevenson RE, Schwartz CE, Du Y-Z, Adams Jr MJ. Differences in methylenetetrahydrofolate reductase genotype frequencies, between whites and blacks. Am J Hum Genet 1997; 60: 229-230 25 Steegers-Theunissen RPM, Boers GHJ, Trijbels FJM, Finkelstein JD, Blom HJ, Thomas CMG, Borm GF, Wouters MGAJ, Eskes TKAB. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects. Metabolism 43 1994; 1475-1480 26 Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JH. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345 1995; 149-151 27 Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, Shields DC, Scott JM. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. Q J Med 88 1995; 763-766 28 Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Oakley Jr GP, Adams Jr MJ. 5,10-methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63 1996; 610-614 29 Kirke PN, Mills JL, Whitehead AS, Molloy A, Scott JM. Methylenetetrahydrofolate reductase mutation and neural tube defects. The Lancet 348 1996; 1037-1038 30 van der Put NMJ, van den Heuvel LP, Steegers-Theunissen RPM, Trijbels FJM, Eskes TKAB, Mariman ECM, den Heyer M, Blom HJ. Decreased methylene tetrahydrofolate reductase activity due to the 677CdT mutation in families with spina bifida offspring. J Mol Med 74 1996; 691-694 31 Chen J, Giovannucci E, Kelsey K, Rimm EB, Stampfer MJ, Colditz GA, Spiegelman D, Willett WC, Hunter DJ. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 56 1996; 4862-4864 32 Ma J, Stampfer MJ, Giovannucci E, Artigas C, Hunter D, Fuchs C, Willett W, Selhub J, Hennekens CH, Rozen R. Methylenetetrahydrofolate reductase polymorphism, reduced risk of colorectal cancer and dietary interactions. Cancer Res. in press