메뉴 건너뛰기




Volumn 80, Issue 4, 2003, Pages 463-468

Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

Author keywords

B12; Folate; Homocysteine; Methylmalonyl CoA; MMA; MTHFR; MUT; Neural tube defects; Spina Bifida

Indexed keywords

CYANOCOBALAMIN; ENZYME VARIANT; METHYLMALONYL COENZYME A MUTASE;

EID: 0345356231     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.09.009     Document Type: Article
Times cited : (6)

References (52)
  • 1
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • Botto L.D., Yang Q. 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
  • 3
    • 0033365197 scopus 로고    scopus 로고
    • The Thermolabile variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother
    • Shields D.C., Kirke P.N., Mills J.L., Ramsbottom D., Molloy A.M., Burke H., Weir D.G., Scott J.M., Whitehead A.S. The Thermolabile variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am. J. Hum. Genet. 64:1999;1045-1055.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1045-1055
    • Shields, D.C.1    Kirke, P.N.2    Mills, J.L.3    Ramsbottom, D.4    Molloy, A.M.5    Burke, H.6    Weir, D.G.7    Scott, J.M.8    Whitehead, A.S.9
  • 6
    • 0031969348 scopus 로고    scopus 로고
    • Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate- cyclohydrolase, formyltetrahydrofin in patients with neural tube defects
    • Hol F.A., van der Put N.M.J., Geurds M.P.A., Heil S.G., Trijbels F.J.M., Hamel B.C.J., Mariman E.C.M., Blom H.J. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate- dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofin in patients with neural tube defects. Clin. Genet. 53:1998;119-125.
    • (1998) Clin. Genet. , vol.53 , pp. 119-125
    • Hol, F.A.1    Van Der Put, N.M.J.2    Geurds, M.P.A.3    Heil, S.G.4    Trijbels, F.J.M.5    Hamel, B.C.J.6    Mariman, E.C.M.7    Blom, H.J.8
  • 7
    • 18644379774 scopus 로고    scopus 로고
    • A polymorphism R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: Report of the Birth Defects Research Group
    • Brody L.C., Conley M., Cox C., Kirke P.N., McKeever M.P., Mills J.L., Molloy A.M., O'Leary V.B., Parle-McDermott A., Scott J.M., Swanson D.A. A polymorphism R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am. J. Hum. Genet. 71:2002;1207-2115.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1207-2115
    • Brody, L.C.1    Conley, M.2    Cox, C.3    Kirke, P.N.4    Mckeever, M.P.5    Mills, J.L.6    Molloy, A.M.7    O'leary, V.B.8    Parle-Mcdermott, A.9    Scott, J.M.10    Swanson, D.A.11
  • 8
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: results of the Medical Research Council vitamin study
    • MRC Vitamin Study Research Group
    • MRC Vitamin Study Research Group, Prevention of neural tube defects: results of the Medical Research Council vitamin study, Lancet 338 (1991) 131-137.
    • (1991) Lancet , vol.338 , pp. 131-137
  • 9
    • 0027080461 scopus 로고
    • Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation
    • Czeizel A.E., Dudas I. Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 327:1992;1832-1835.
    • (1992) N. Engl. J. Med. , vol.327 , pp. 1832-1835
    • Czeizel, A.E.1    Dudas, I.2
  • 10
    • 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 A.M., Mills J.L., Kirke P.N., Ramsbottom D., McPartlin J.M., Burke H., Conley M., Whitehead A.S., Weir D.G., Scott J.M. 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. 78:1998;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
  • 15
    • 0029372892 scopus 로고
    • A case-control study of maternal nutrition and neural tube defects in Northern Ireland
    • Wright M.E. A case-control study of maternal nutrition and neural tube defects in Northern Ireland. Midwifery. 11:1995;146-152.
    • (1995) Midwifery , vol.11 , pp. 146-152
    • Wright, M.E.1
  • 20
    • 0037306954 scopus 로고    scopus 로고
    • Maternal serum b(12) levels and risk of neural tube defects in a Texas-Mexico border population
    • Suarez L., Hendricks K., Felkner M., Gunter E. Maternal serum b(12) levels and risk of neural tube defects in a Texas-Mexico border population. Ann. Epidemiol. 13:2003;81-88.
    • (2003) Ann. Epidemiol. , vol.13 , pp. 81-88
    • Suarez, L.1    Hendricks, K.2    Felkner, M.3    Gunter, E.4
  • 21
    • 0032817581 scopus 로고    scopus 로고
    • Methionine synthase: High-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects
    • doi: 10.1006/mgme.1999.2881
    • Brody L.C., Baker P.J., Chines P.S., Musick A., Molloy A.M., Kirke P.N., Ghosh S., Scott J.M., Mills J.L. Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects. Mol. Genet. Metab. 67:1999;324-333. doi: 10.1006/mgme.1999.2881.
    • (1999) Mol. Genet. Metab. , vol.67 , pp. 324-333
    • Brody, L.C.1    Baker, P.J.2    Chines, P.S.3    Musick, A.4    Molloy, A.M.5    Kirke, P.N.6    Ghosh, S.7    Scott, J.M.8    Mills, J.L.9
  • 26
    • 0034537259 scopus 로고    scopus 로고
    • Cormorbidity of 5,10-mehtylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk of neural tube defects
    • Johanning G.L., Tamura T., Johnston K.E., Wenstrom K.D. Cormorbidity of 5,10-mehtylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk of neural tube defects. J. Med. Genet. 37:2000;949-951.
    • (2000) J. Med. Genet. , vol.37 , pp. 949-951
    • Johanning, G.L.1    Tamura, T.2    Johnston, K.E.3    Wenstrom, K.D.4
  • 29
    • 0024115324 scopus 로고    scopus 로고
    • Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6
    • Zoghbi H.Y., O'Brien W.E., Ledley F.D. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics. 3:1998;396-398.
    • (1998) Genomics , vol.3 , pp. 396-398
    • Zoghbi, H.Y.1    O'brien, W.E.2    Ledley, F.D.3
  • 30
    • 0031030751 scopus 로고    scopus 로고
    • Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations
    • Ledley F.D., Rosenblatt D.S. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. Hum. Mutat. 9:1997;1-6.
    • (1997) Hum. Mutat. , vol.9 , pp. 1-6
    • Ledley, F.D.1    Rosenblatt, D.S.2
  • 31
    • 0011480897 scopus 로고    scopus 로고
    • Inborn Errors of Cobalamin Metabolism
    • R. Banerjee. New York: Wiley/Interscience
    • 12. 1999;367-384 Wiley/Interscience, New York.
    • (1999) 12 , pp. 367-384
    • Rosenblatt, D.S.1    Fenton, W.A.2
  • 33
    • 0028246680 scopus 로고
    • Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
    • Ogasawara M., Matsubara Y., Mikami H., Narisawa K. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum. Mol. Genet. 3:1994;867-872.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 867-872
    • Ogasawara, M.1    Matsubara, Y.2    Mikami, H.3    Narisawa, K.4
  • 36
    • 0025606161 scopus 로고
    • Structure of the human methylmalonyl-CoA mutase (MUT) locus
    • Nham S.-U., Wilkemeyer M.F., Ledley F.D. Structure of the human methylmalonyl-CoA mutase (MUT) locus. Genomics. 8:1990;710-716.
    • (1990) Genomics , vol.8 , pp. 710-716
    • Nham, S.-U.1    Wilkemeyer, M.F.2    Ledley, F.D.3
  • 39
    • 0031949066 scopus 로고    scopus 로고
    • A log-linear approach to case-parent-triad data: Assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parent imprinting
    • Weinberg C.R., Wilcox A.J., Lie R.T. A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parent imprinting. Am. J. Hum. Genet. 62:1998;969-978.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 969-978
    • Weinberg, C.R.1    Wilcox, A.J.2    Lie, R.T.3
  • 40
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman R.S., McGinnis R.E., Ewens W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52:1993;506-511.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 506-511
    • Spielman, R.S.1    Mcginnis, R.E.2    Ewens, W.J.3
  • 42
    • 0036844005 scopus 로고    scopus 로고
    • Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
    • Doolin M.T., Barbaux S., McDonnell M., Hoess K., Whitehead A.S., Mitchell L.E. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am. J. Hum. Genet. 71:2002;1222-1226.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1222-1226
    • Doolin, M.T.1    Barbaux, S.2    Mcdonnell, M.3    Hoess, K.4    Whitehead, A.S.5    Mitchell, L.E.6
  • 43
    • 0037341890 scopus 로고    scopus 로고
    • Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects
    • doi: 10.1016/S1096-7192(03)00008-8
    • Zhu H., Wicker N.J., Shaw G.M., Lammer E.J., Hendricks S., Suarez L., Canfield M., Finnell R.H. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol. Genet. Metab. 78:2003;216-221. doi: 10.1016/S1096-7192(03)00008-8.
    • (2003) Mol. Genet. Metab. , vol.78 , pp. 216-221
    • Zhu, H.1    Wicker, N.J.2    Shaw, G.M.3    Lammer, E.J.4    Hendricks, S.5    Suarez, L.6    Canfield, M.7    Finnell, R.H.8
  • 44
    • 0025794167 scopus 로고
    • Transcobalamins in the etiology of neural tube defects
    • Magnus P., Magnus E.M., Berg K. Transcobalamins in the etiology of neural tube defects. Clin. Genet. 39:1991;309-310.
    • (1991) Clin. Genet. , vol.39 , pp. 309-310
    • Magnus, P.1    Magnus, E.M.2    Berg, K.3
  • 45
    • 0036045429 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in the transcobalamin gene: Relationship with transcobalamin concentrations and risk for neural tube defects
    • Afman L.A., Lievers K.J., van der Put N.M., Trijbels F.J., Blom H.J. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur. J. Hum. Genet. 10:2002;433-438.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 433-438
    • Afman, L.A.1    Lievers, K.J.2    Van Der Put, N.M.3    Trijbels, F.J.4    Blom, H.J.5
  • 46
    • 0025348129 scopus 로고
    • Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia
    • Ledley F.D., Crane A.M., Lumetta M. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am. J. Hum. Genet. 46:1990;539-547.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 539-547
    • Ledley, F.D.1    Crane, A.M.2    Lumetta, M.3
  • 49
    • 0032819943 scopus 로고    scopus 로고
    • Neural tube defect prevalence in California (1990-1994): Eliciting patterns by type of defect and maternal race/ethnicity
    • Feuchtbaum L.B., Currier R.J., Riggle S., Roberson M., Lorey F.W., Cunningham G.C. Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity. Genet. Test. 3:1999;265-272.
    • (1999) Genet. Test , vol.3 , pp. 265-272
    • Feuchtbaum, L.B.1    Currier, R.J.2    Riggle, S.3    Roberson, M.4    Lorey, F.W.5    Cunningham, G.C.6
  • 50
    • 0037079957 scopus 로고    scopus 로고
    • Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in texas; A report of a novel MTHFR polymorphic site, G1793A
    • Rady P.L., Szucs S., Grady J., Hudnall D.S., Kellner L.H., Nitowsky H., Tyring S.K., Matalon R.K. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in texas; a report of a novel MTHFR polymorphic site, G1793A. Am. J. Med. Genet. 107:2002;162-168.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 162-168
    • Rady, P.L.1    Szucs, S.2    Grady, J.3    Hudnall, D.S.4    Kellner, L.H.5    Nitowsky, H.6    Tyring, S.K.7    Matalon, R.K.8
  • 51
    • 0037313390 scopus 로고    scopus 로고
    • Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups
    • Esfahani S.T., Cogger E.A., Caudill M.A. Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups. J. Am. Diet. Assoc. 103:2003;200-207.
    • (2003) J. Am. Diet. Assoc. , vol.103 , pp. 200-207
    • Esfahani, S.T.1    Cogger, E.A.2    Caudill, M.A.3
  • 52
    • 0344091561 scopus 로고    scopus 로고
    • Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
    • Carlson C.S., Eberle M.A., Rieder M.J., Smith J.D., Kruglyak L., Nickerson D.A. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat. Genet. 33:2003;518-521.
    • (2003) Nat. Genet. , vol.33 , pp. 518-521
    • Carlson, C.S.1    Eberle, M.A.2    Rieder, M.J.3    Smith, J.D.4    Kruglyak, L.5    Nickerson, D.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.