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Volumn 6, Issue 2-3, 2004, Pages 117-126

Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia

Author keywords

A1298C mutation; C677T mutation; DG DGGE; Epilepsy; Hyperhomocysteinemia; Methylenetetrahydrofolate reductase; Neurodegeneration

Indexed keywords

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

EID: 24644452601     PISSN: 15351084     EISSN: None     Source Type: Journal    
DOI: 10.1385/NMM:6:2-3:117     Document Type: Article
Times cited : (46)

References (24)
  • 1
    • 0032953065 scopus 로고    scopus 로고
    • Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis
    • Cremonesi L., Carrera P., Fumagalli A., et al. (1999) Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis. Clin. Chem. 45, 35-40.
    • (1999) Clin. Chem. , vol.45 , pp. 35-40
    • Cremonesi, L.1    Carrera, P.2    Fumagalli, A.3
  • 2
    • 0035987006 scopus 로고    scopus 로고
    • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    • De Marco P., Calevo M. G., Moroni A., et al. (2002) Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J. Hum Genet. 47, 319-324.
    • (2002) J. Hum Genet. , vol.47 , pp. 319-324
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3
  • 3
    • 0036019532 scopus 로고    scopus 로고
    • A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: Relationships with C677T polymorphism and homocysteine/folate metabolism
    • Friso S., Girelli D., Trabetti E., et al. (2002) A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism. Clin. Exp. Med. 2, 7-12.
    • (2002) Clin. Exp. Med. , vol.2 , pp. 7-12
    • Friso, S.1    Girelli, D.2    Trabetti, E.3
  • 4
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P., Blom H. J., Milos R., et al. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10, 111-113.
    • (1995) Nat. Genet. , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 5
    • 0032081312 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from Northern Italy with or without angiographically documented severe coronary atherosclerotic disease: Evidence for an important genetic-environmental interaction
    • Girelli D., Friso S., Trabetti E., et al. (1998) Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from Northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction. Blood 91, 4158-4163.
    • (1998) Blood , vol.91 , pp. 4158-4163
    • Girelli, D.1    Friso, S.2    Trabetti, E.3
  • 6
    • 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
    • EARS group
    • Gudnason V., Stansbie D., Scott J., Bowron A., Nicaud V., and Humphries S. (1998) C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations. EARS group, 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
  • 7
    • 0033620779 scopus 로고    scopus 로고
    • Homocysteine and vascular disease
    • Hankey G. J. and Eikelboom J. W. (1999) Homocysteine and vascular disease. Lancet 354, 407-413.
    • (1999) Lancet , vol.354 , pp. 407-413
    • Hankey, G.J.1    Eikelboom, J.W.2
  • 8
    • 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. R., et al. (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.R.3
  • 9
    • 0347296358 scopus 로고    scopus 로고
    • Association of the C677T and A1298C polymorphisms in the 5,10-methylenetetrahydrofolate reductase gene in patients with migraine risk
    • Kara I., Sazci A., Ergul E., Kaya G., and Kilic G. (2003) Association of the C677T and A1298C polymorphisms in the 5,10-methylenetetrahydrofolate reductase gene in patients with migraine risk. Mol. Brain Res. 111, 84-90.
    • (2003) Mol. Brain Res. , vol.111 , pp. 84-90
    • Kara, I.1    Sazci, A.2    Ergul, E.3    Kaya, G.4    Kilic, G.5
  • 10
    • 0037364417 scopus 로고    scopus 로고
    • Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders
    • Mattson M. P. and Shea T. B. (2003) Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders. TINS 26, 137-146.
    • (2003) TINS , vol.26 , pp. 137-146
    • Mattson, M.P.1    Shea, T.B.2
  • 11
    • 0035864638 scopus 로고    scopus 로고
    • Identification of six methylenete-trahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: Impact on plasma homocysteine levels and development of coronary artery disease
    • Meisel C., Cascorbi I., Gerloff T., et al. (2001) Identification of six methylenete-trahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease. Atherosclerosis 154, 651-658.
    • (2001) Atherosclerosis , vol.154 , pp. 651-658
    • Meisel, C.1    Cascorbi, I.2    Gerloff, T.3
  • 12
    • 0033423877 scopus 로고    scopus 로고
    • A P-value for an exact two-sided test of Hardy-Weinberg equilibrium
    • Meulepas E. (1999) A P-value for an exact two-sided test of Hardy-Weinberg equilibrium. Biomed. J. 41, 499-505.
    • (1999) Biomed. J. , vol.41 , pp. 499-505
    • Meulepas, E.1
  • 13
    • 0030744636 scopus 로고    scopus 로고
    • Plasma total homocysteine concentrations in epileptic patients taking anticonvulsants
    • Ono H., Sakamoto A., Eguchi T., Sakura N., Noumura S., and Fujita N. (1997) Plasma total homocysteine concentrations in epileptic patients taking anticonvulsants. Metabolism 46, 959-962.
    • (1997) Metabolism , vol.46 , pp. 959-962
    • Ono, H.1    Sakamoto, A.2    Eguchi, T.3    Sakura, N.4    Noumura, S.5    Fujita, N.6
  • 14
    • 0036100083 scopus 로고    scopus 로고
    • The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsivants
    • Ono H., Sakamoto A., Mizoguchi N., and Sakura N. (2002) The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsivants. Brain Dev. 24, 223-226.
    • (2002) Brain Dev. , vol.24 , pp. 223-226
    • Ono, H.1    Sakamoto, A.2    Mizoguchi, N.3    Sakura, N.4
  • 15
    • 0032231408 scopus 로고    scopus 로고
    • Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase
    • Pepe G., Camacho Vanegas O., Giusti B., et al. (1998) Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10- methylenetetrahydrofolate reductase. Am. J. Hum. Genet. 63, 917-920.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 917-920
    • Pepe, G.1    Camacho Vanegas, O.2    Giusti, B.3
  • 16
    • 0036798246 scopus 로고    scopus 로고
    • Implications on human fertility of the 677C→T and 1298A→C polymorphisms of the MTHFR gene: Consequences of a possible genetic selection
    • Reyes-Engel A., Munoz E., Gaitan M. J., et al. (2002) Implications on human fertility of the 677C→T and 1298A→C polymorphisms of the MTHFR gene: consequences of a possible genetic selection. Mol. Hum. Reprod. 8, 952-957.
    • (2002) Mol. Hum. Reprod. , vol.8 , pp. 952-957
    • Reyes-Engel, A.1    Munoz, E.2    Gaitan, M.J.3
  • 17
    • 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
  • 18
    • 0032910781 scopus 로고    scopus 로고
    • Elevated plasma concentrations of homocysteine in antiepileptic drug treatment
    • Schwaninger M., Ringleb P., Winter R., et al. (1999) Elevated plasma concentrations of homocysteine in antiepileptic drug treatment. Epilepsia 40, 345-350.
    • (1999) Epilepsia , vol.40 , pp. 345-350
    • Schwaninger, M.1    Ringleb, P.2    Winter, R.3
  • 19
    • 0033527788 scopus 로고    scopus 로고
    • Linkage disequilibrium of MTHFR genotypes 677C/ T-1298A/C in the German population and association studies in probands with neural tube defects (NTD)
    • Stegmann K., Ziegler A., Ngo E.T., et al. (1999) Linkage disequilibrium of MTHFR genotypes 677C/ T-1298A/C in the German population and association studies in probands with neural tube defects (NTD). Am. J. Med. Genet. 87, 23-29.
    • (1999) Am. J. Med. Genet. , vol.87 , pp. 23-29
    • Stegmann, K.1    Ziegler, A.2    Ngo, E.T.3
  • 20
    • 0028968329 scopus 로고
    • A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
    • Terwillinger J. D. (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet. 56, 777-787.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 777-787
    • Terwillinger, J.D.1
  • 21
    • 0028844492 scopus 로고
    • Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
    • van der Put N. M., Steegers-Theunissen R. P., Frosst P., et al. (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346, 1070-1071.
    • (1995) Lancet , vol.346 , pp. 1070-1071
    • Van Der Put, N.M.1    Steegers-Theunissen, R.P.2    Frosst, P.3
  • 22
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • Weisberg I. S., Tran P., Christensen B., Sibani S., and 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.S.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 23
    • 13044250452 scopus 로고    scopus 로고
    • A common mutation in the methylenetetrahydrofolate reductase gene is a determinant of hyperhomocysteinemia in epileptic patients receiving anticonvulsants
    • Yoo J. H. and Hong S. B. (1999) A common mutation in the methylenetetrahydrofolate reductase gene is a determinant of hyperhomocysteinemia in epileptic patients receiving anticonvulsants. Metabolism 48, 1047-1051.
    • (1999) Metabolism , vol.48 , pp. 1047-1051
    • Yoo, J.H.1    Hong, S.B.2
  • 24
    • 85047696639 scopus 로고    scopus 로고
    • Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos
    • Zetterberg H., Regland B., Palmer M., et al. (2002) Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur. J. Hum. Genet. 10, 113-118.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 113-118
    • Zetterberg, H.1    Regland, B.2    Palmer, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.