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Volumn 26, Issue 1, 2006, Pages 1-5

Homocysteine metabolism in families from southern Italy with neural tube defects: Role of genetic and nutritional determinants

Author keywords

Homocysteine plasma levels; Neural tube defects; Polymorphisms

Indexed keywords

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

EID: 31944431893     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1359     Document Type: Article
Times cited : (30)

References (28)
  • 1
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • Botto LD, Yang Q. 2000. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151(9): 862-877.
    • (2000) Am J Epidemiol , vol.151 , Issue.9 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 2
    • 0028863219 scopus 로고
    • Folate levels and neural tube defects: Implications for prevention
    • Daly LE, Kirke PN, Molloy AM, Weir DG, Scott JM. 1995. Folate levels and neural tube defects: implications for prevention. JAMA 274: 1698-1702.
    • (1995) JAMA , vol.274 , pp. 1698-1702
    • Daly, L.E.1    Kirke, P.N.2    Molloy, A.M.3    Weir, D.G.4    Scott, J.M.5
  • 3
    • 17344370082 scopus 로고    scopus 로고
    • The C 677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy
    • de Franchis R, Buoninconti A, Mandato C, et al. 1998. The C 677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet 35(12): 1009-1013.
    • (1998) J Med Genet , vol.35 , Issue.12 , pp. 1009-1013
    • De Franchis, R.1    Buoninconti, A.2    Mandato, C.3
  • 4
    • 0025753306 scopus 로고
    • Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis 1980-86
    • Eurocat Working Group. 1991. Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis 1980-86. J Epidemiol Community Health 45: 52-58.
    • (1991) J Epidemiol Community Health , vol.45 , pp. 52-58
  • 5
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, 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
  • 6
    • 0033794925 scopus 로고    scopus 로고
    • Neonatal and Fetal Methylenetetrahydrofolate reductase genetic polymorphisms: An examination of C677T and A1298C mutations
    • Isotalo PA, Wells GA, Donnelly JG 2000. Neonatal and Fetal Methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet 67: 986-990.
    • (2000) Am J Hum Genet , vol.67 , pp. 986-990
    • Isotalo, P.A.1    Wells, G.A.2    Donnelly, J.G.3
  • 7
    • 0023243925 scopus 로고
    • Homocysteinemia due to folate deficiency
    • Kang S, Wong PWK, Norusis M 1987. Homocysteinemia due to folate deficiency. Metabolism 36: 458-462.
    • (1987) Metabolism , vol.36 , pp. 458-462
    • Kang, S.1    Wong, P.W.K.2    Norusis, M.3
  • 8
    • 0027145847 scopus 로고
    • Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects
    • Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM 1993. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 86: 703-708.
    • (1993) Q J Med , vol.86 , pp. 703-708
    • Kirke, P.N.1    Molloy, A.M.2    Daly, L.E.3    Burke, H.4    Weir, D.G.5    Scott, J.M.6
  • 9
    • 3042784787 scopus 로고    scopus 로고
    • Impact of the MTHFR C677T polymorphism on risk of neural tube defects: Case-control study
    • Kirke PN, Mills JL, Molloy AM, et al. 2004. Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study. BMJ 328(7455): 1535-1536.
    • (2004) BMJ , vol.328 , Issue.7455 , pp. 1535-1536
    • Kirke, P.N.1    Mills, J.L.2    Molloy, A.M.3
  • 10
    • 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(6): 487-492.
    • (1998) Eur J Pediatr , vol.157 , Issue.6 , pp. 487-492
    • Koch, M.C.1    Stegmann, K.2    Ziegler, A.3    Schroter, B.4    Ermert, A.5
  • 11
    • 0034971293 scopus 로고    scopus 로고
    • High prevalence of the I278T mutation of the human cystathionine b- synthase detected by a novel screening application
    • Linnebank M, Hornberger A, Junker R, Nowak-Goettl U, Harms E, Koch HG 2001. High prevalence of the I278T mutation of the human cystathionine b- synthase detected by a novel screening application. Thromb Haemost 85(6): 986-988.
    • (2001) Thromb Haemost , vol.85 , Issue.6 , pp. 986-988
    • Linnebank, M.1    Hornberger, A.2    Junker, R.3    Nowak-Goettl, U.4    Harms, E.5    Koch, H.G.6
  • 12
    • 0032823860 scopus 로고    scopus 로고
    • Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry
    • Magera MJ, Lacey JM, Casetta B, Rinaldo P. 1999. Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem 45(9): 1517-1522.
    • (1999) Clin Chem , vol.45 , Issue.9 , pp. 1517-1522
    • Magera, M.J.1    Lacey, J.M.2    Casetta, B.3    Rinaldo, P.4
  • 13
    • 0031847816 scopus 로고    scopus 로고
    • Increased risk for venous thrombosis in carriers of the FII G > A 20210 gene variant
    • Margaglione M, Brancaccio V, Giuliani N, et al. 1998. Increased risk for venous thrombosis in carriers of the FII G > A 20210 gene variant. Ann Intern Med 129: 89-93.
    • (1998) Ann Intern Med , vol.129 , pp. 89-93
    • Margaglione, M.1    Brancaccio, V.2    Giuliani, N.3
  • 14
    • 0032448182 scopus 로고    scopus 로고
    • Susceptibility to spina bifida; an association study of five candidate genes
    • Morrison K, Papapetrou C, Hol FA, et al. 1998. Susceptibility to spina bifida; an association study of five candidate genes. Ann Hum Genet 62(Pt 5): 379-396.
    • (1998) Ann Hum Genet , vol.62 , Issue.PART 5 , pp. 379-396
    • Morrison, K.1    Papapetrou, C.2    Hol, F.A.3
  • 15
    • 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 2: 131-137.
    • (1991) Lancet , vol.2 , pp. 131-137
  • 16
    • 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(9019): 58.
    • (1996) Lancet , vol.348 , Issue.9019 , pp. 58
    • Papapetrou, C.1    Lynch, S.A.2    Burn, J.3    Edwards, Y.H.4
  • 17
    • 0037908697 scopus 로고    scopus 로고
    • Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects
    • Parle-McDermott A, Mills JL, Kirke PN, et al. 2003. Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects. J Hum Genet 48(4): 190-193.
    • (2003) J Hum Genet , vol.48 , Issue.4 , pp. 190-193
    • Parle-McDermott, A.1    Mills, J.L.2    Kirke, P.N.3
  • 18
    • 0031044302 scopus 로고    scopus 로고
    • Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?
    • Ramsbottom D, Scott JM, Molloy A, et al. 1997. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet 51(1): 39-42.
    • (1997) Clin Genet , vol.51 , Issue.1 , pp. 39-42
    • Ramsbottom, D.1    Scott, J.M.2    Molloy, A.3
  • 19
    • 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 DC, Kirke PN, Mills JL, et al. 1999. 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(4): 1045-1055.
    • (1999) Am J Hum Genet , vol.64 , Issue.4 , pp. 1045-1055
    • Shields, D.C.1    Kirke, P.N.2    Mills, J.L.3
  • 20
    • 0031215455 scopus 로고    scopus 로고
    • The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
    • The NTD Collaborative Group
    • Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM. 1997. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. Neurogenetics 1(2): 149-150.
    • (1997) Neurogenetics , vol.1 , Issue.2 , pp. 149-150
    • Speer, M.C.1    Worley, G.2    Mackey, J.F.3    Melvin, E.4    Oakes, W.J.5    George, T.M.6
  • 21
    • 0029028236 scopus 로고
    • Neural tube defects and elevated homocysteine levels in amniotic fluid
    • Steegers-Theunissen RP, Boers GH, Blom HJ, et al. 1995. Neural tube defects and elevated homocysteine levels in amniotic fluid. Am J Obstet Gynecol 172(5): 1436-1441.
    • (1995) Am J Obstet Gynecol , vol.172 , Issue.5 , pp. 1436-1441
    • Steegers-Theunissen, R.P.1    Boers, G.H.2    Blom, H.J.3
  • 22
    • 0031066138 scopus 로고    scopus 로고
    • Is the common 677C > T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis
    • van der Put NMJ, Eskes TKAB, Blom HJ. 1997. Is the common 677C > T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q J Med 90: 111-115.
    • (1997) Q J Med , vol.90 , pp. 111-115
    • Van Der Put, N.M.J.1    Eskes, T.K.A.B.2    Blom, H.J.3
  • 24
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural tube defects?
    • van der Put NM, Gabreels F, Stevens EMB, et al. 1998. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 62: 1044-1051.
    • (1998) Am J Hum Genet , vol.62 , pp. 1044-1051
    • Van Der Put, N.M.1    Gabreels, F.2    Stevens, E.M.B.3
  • 26
    • 0034613964 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase and spima bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics
    • Volcik KA, Blanton SH, Tyerman GH, et al. 2000. Methylenetetrahydrofolate reductase and spima bifida: evaluation of level of defect and maternal genotypic risk in Hispanics. Am J Med Genet 95: 21-27.
    • (2000) Am J Med Genet , vol.95 , pp. 21-27
    • Volcik, K.A.1    Blanton, S.H.2    Tyerman, G.H.3
  • 27
    • 0033987165 scopus 로고    scopus 로고
    • Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrofolate reductase genotypes, and neural tube closure sites
    • Wenstrom KD, Johanning GL, Owen J, et al. 2000. Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrofolate reductase genotypes, and neural tube closure sites. Am J Med Genet 90: 6-11.
    • (2000) Am J Med Genet , vol.90 , pp. 6-11
    • Wenstrom, K.D.1    Johanning, G.L.2    Owen, J.3
  • 28
    • 0037563970 scopus 로고    scopus 로고
    • Study on genotypes of cystathionine beta-synthase in neural tube defects
    • Zhao R, Zhu H, Dao J, Li Z. 2000. Study on genotypes of cystathionine beta-synthase in neural tube defects. Wei Sheng Yan Jiu 29(1): 50-51.
    • (2000) Wei Sheng Yan Jiu , vol.29 , Issue.1 , pp. 50-51
    • Zhao, R.1    Zhu, H.2    Dao, J.3    Li, Z.4


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