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Volumn 86, Issue 4, 1999, Pages 380-384

Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population

Author keywords

Ashkenazi Jews; MTHFR; Polymorphism; Risk mutations

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

EID: 0032822750     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991008)86:4<380::AID-AJMG13>3.0.CO;2-9     Document Type: Article
Times cited : (63)

References (44)
  • 2
    • 0032042477 scopus 로고    scopus 로고
    • Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians
    • Camacho Vanegas O, Giusti B, Restrepo Fernandez CM, Abbate R, Pepe G. 1998. Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians. Thromb Haemost 79:883-884.
    • (1998) Thromb Haemost , vol.79 , pp. 883-884
    • Camacho Vanegas, O.1    Giusti, B.2    Restrepo Fernandez, C.M.3    Abbate, R.4    Pepe, G.5
  • 3
    • 0030054078 scopus 로고    scopus 로고
    • Hispanic origin and neural tube defects in Houston/Harris county Texas. I. Descriptive epidemiology
    • Canfield MA, Annegers JF, Brender JD, Cooper SP, Greenberg F. 1996. Hispanic origin and neural tube defects in Houston/Harris county Texas. I. Descriptive epidemiology. Am J Epidemiol 143:1-11.
    • (1996) Am J Epidemiol , vol.143 , pp. 1-11
    • Canfield, M.A.1    Annegers, J.F.2    Brender, J.D.3    Cooper, S.P.4    Greenberg, F.5
  • 5
    • 0031757073 scopus 로고    scopus 로고
    • Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology
    • Clark ZE, Bowen DJ, Whatley SD, Bellamy MF, Collins PW, McDowell IF. 1998. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology. Clin Chem 44:2360-2362.
    • (1998) Clin Chem , vol.44 , pp. 2360-2362
    • Clark, Z.E.1    Bowen, D.J.2    Whatley, S.D.3    Bellamy, M.F.4    Collins, P.W.5    McDowell, I.F.6
  • 6
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
    • Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
    • (1992) N Engl J Med , vol.327 , pp. 1832-1835
    • Czeizel, A.E.1    Dudas, I.2
  • 10
    • 0031657015 scopus 로고    scopus 로고
    • Open or closed? A world of difference: A history of homocysteine research
    • Eskes TK. 1998. Open or closed? A world of difference: a history of homocysteine research. Nutr Rev 56:236-244.
    • (1998) Nutr Rev , vol.56 , pp. 236-244
    • Eskes, T.K.1
  • 11
    • 2642701740 scopus 로고    scopus 로고
    • Analysis of the 677 C→T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups
    • Franco RF, Araujo AG, Guerreiro JF, Elion J, Zago MA. 1998. Analysis of the 677 C→T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups. Thromb Haemost 79:119-121.
    • (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
  • 15
    • 0028905178 scopus 로고
    • Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/ phenotype correlations in severe methylenetetrahydrofolate reductase deficiency
    • Goyette P, Frosst P, Rosenblatt DS, Rozen R. 1995. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/ phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56:1052-1059.
    • (1995) Am J Hum Genet , vol.56 , pp. 1052-1059
    • Goyette, P.1    Frosst, P.2    Rosenblatt, D.S.3    Rozen, R.4
  • 16
    • 0029847109 scopus 로고    scopus 로고
    • Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR
    • Goyette P, Christensen B, Rosenblatt DS, Rozen R. 1996. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet 59:1268-1275.
    • (1996) Am J Hum Genet , vol.59 , pp. 1268-1275
    • Goyette, P.1    Christensen, B.2    Rosenblatt, D.S.3    Rozen, R.4
  • 17
    • 84965272196 scopus 로고
    • Anencephalus and spina bifida
    • Gross R. 1968. Anencephalus and spina bifida Br Med J 3:253.
    • (1968) Br Med J , vol.3 , pp. 253
    • Gross, R.1
  • 18
    • 0032005443 scopus 로고    scopus 로고
    • C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): Its frequency and impact on plasma homocysteine concentration in different European populations
    • Gudnason V, Stansbie D, Scott J, Bowron A, Nicaud V, Humphries S. 1998. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations. Atherosclerosis 136:347-354.
    • (1998) Atherosclerosis , vol.136 , pp. 347-354
    • Gudnason, V.1    Stansbie, D.2    Scott, J.3    Bowron, A.4    Nicaud, V.5    Humphries, S.6
  • 20
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie 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.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Ruggie, N.6
  • 23
    • 0031832956 scopus 로고    scopus 로고
    • Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population
    • Koch MC, Stegmann K, Ziegler A, Schroter B, Ermert A. 1998. Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. Eur J Pediatr 157:487-492.
    • (1998) Eur J Pediatr , vol.157 , pp. 487-492
    • Koch, M.C.1    Stegmann, K.2    Ziegler, A.3    Schroter, B.4    Ermert, A.5
  • 24
  • 25
  • 26
    • 0032581051 scopus 로고    scopus 로고
    • Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: Low folate status alone may be the critical factor
    • Molloy AM, Mills JL, Kirke PN, Ramsbottom D, McPartlin JM, Burke H, Conley M, Whitehead AS, Weir DG, Scott JM. 1998. Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor. Am J Med Genet 78:155-159.
    • (1998) Am J Med Genet , vol.78 , pp. 155-159
    • Molloy, A.M.1    Mills, J.L.2    Kirke, P.N.3    Ramsbottom, D.4    McPartlin, J.M.5    Burke, H.6    Conley, M.7    Whitehead, A.S.8    Weir, D.G.9    Scott, J.M.10
  • 27
    • 0031429097 scopus 로고    scopus 로고
    • Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    • Mornet E, Muller F, Lenvoise-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL. 1997. Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet 100:512-514.
    • (1997) Hum Genet , vol.100 , pp. 512-514
    • Mornet, E.1    Muller, F.2    Lenvoise-Furet, A.3    Delezoide, A.L.4    Col, J.Y.5    Simon-Bouy, B.6    Serre, J.L.7
  • 28
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study
    • MRC Vitamin Study Research Group. 1991. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131-137.
    • (1991) Lancet , vol.338 , pp. 131-137
  • 30
    • 0029886679 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase and neural tube defects
    • Papapetrou C, Lynch SA, Burn J, Edwards YH. 1996. Methylenetetrahydrofolate reductase and neural tube defects. Lancet 348:58.
    • (1996) Lancet , vol.348 , pp. 58
    • Papapetrou, C.1    Lynch, S.A.2    Burn, J.3    Edwards, Y.H.4
  • 31
    • 0032420184 scopus 로고    scopus 로고
    • Recent data are not in conflict with homocysteine as a cardiovascular risk factor
    • Refsum H, Ueland PM. 1998. Recent data are not in conflict with homocysteine as a cardiovascular risk factor. Curr Opin Lipidol 9:533-539.
    • (1998) Curr Opin Lipidol , vol.9 , pp. 533-539
    • Refsum, H.1    Ueland, P.M.2
  • 32
    • 0031950779 scopus 로고    scopus 로고
    • Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and the risk of coronary artery disease
    • Reinhardt D, Sigusch HH, Vogt SF, Farker K, Muller S, Hoffmann A. 1998. Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and the risk of coronary artery disease. Eur J Clin Invest 28:20-23.
    • (1998) Eur J Clin Invest , vol.28 , pp. 20-23
    • Reinhardt, D.1    Sigusch, H.H.2    Vogt, S.F.3    Farker, K.4    Muller, S.5    Hoffmann, A.6
  • 33
    • 0029816188 scopus 로고    scopus 로고
    • Molecular genetics of methylenetetrahydrofolate reductase deficiency
    • Rozen R. 1996. Molecular genetics of methylenetetrahydrofolate reductase deficiency. J Inherit Metab Dis 19:589-594.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 589-594
    • Rozen, R.1
  • 34
    • 0030811925 scopus 로고    scopus 로고
    • Genetic predisposition to hyperhomocysteinemia: Deficiency of methylenetetrahydrofolate reductase (MTHFR)
    • Rozen R. 1997. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 78:523-526.
    • (1997) Thromb Haemost , vol.78 , pp. 523-526
    • Rozen, R.1
  • 35
    • 0031202097 scopus 로고    scopus 로고
    • High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy
    • Sacchi E, Tagliabue L, Duca F, Mannucci PM. 1997. High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy. Thromb Haemost 78:963-964.
    • (1997) Thromb Haemost , vol.78 , pp. 963-964
    • Sacchi, E.1    Tagliabue, L.2    Duca, F.3    Mannucci, P.M.4
  • 37
    • 0031017820 scopus 로고    scopus 로고
    • Differences in methylenetetrahydrofolate reductase genotype frequencies between whites and blacks
    • Stevenson RE, Schwartz CE, Du YZ, Adams MJ Jr. 1997. Differences in methylenetetrahydrofolate reductase genotype frequencies between Whites and Blacks. Am J Hum Genet 60:229-230.
    • (1997) Am J Hum Genet , vol.60 , pp. 229-230
    • Stevenson, R.E.1    Schwartz, C.E.2    Du, Y.Z.3    Adams M.J., Jr.4
  • 41
    • 0030612756 scopus 로고    scopus 로고
    • The 677 A-T mutation in the methylenetetrahydrofolate reductase gene: Associations with plasma homocysteine levels and risk of coronary atherosclerotic disease
    • Verhoef P, Kok FJ, Kluijtmans LA, Blom HJ, Refsum H, Ueland PM, Kruyssen DA. 1997. The 677 A-T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma homocysteine 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    Kluijtmans, L.A.3    Blom, H.J.4    Refsum, H.5    Ueland, P.M.6    Kruyssen, D.A.7
  • 42
    • 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. Mol Genet Metab 64:169-172.
    • (1998) Mol Genet Metab , vol.64 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 44
    • 0030057401 scopus 로고    scopus 로고
    • Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation
    • Wilcken DE, Wang XL, Sim AS, McCredie RM. 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.1    Wang, X.L.2    Sim, A.S.3    McCredie, R.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.