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Volumn 337, Issue 1-2, 2014, Pages 61-66

Investigations of single nucleotide polymorphisms in folate pathway genes in Chinese families with neural tube defects

Author keywords

Case parental control study; Folate; Genetic association; Neural tube defects; Single nucleotide polymorphisms; Spina bifida

Indexed keywords

CASE-PARENTAL CONTROL STUDY; FOLATE; GENETIC ASSOCIATION; NEURAL TUBE DEFECTS; SINGLE NUCLEOTIDE POLYMORPHISMS; SPINA BIFIDA;

EID: 84894032596     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.11.017     Document Type: Article
Times cited : (30)

References (36)
  • 2
    • 33646270883 scopus 로고    scopus 로고
    • Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China
    • [PubMed: 16575897]
    • Z. Li, A. Ren, L. Zhang, R. Ye, S. Li, and J. Zheng et al. Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China Birth Defects Res A Clin Mol Teratol 76 4 2006 237 240 [PubMed: 16575897]
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , Issue.4 , pp. 237-240
    • Li, Z.1    Ren, A.2    Zhang, L.3    Ye, R.4    Li, S.5    Zheng, J.6
  • 3
    • 79952109518 scopus 로고    scopus 로고
    • Gene-environment interactions, folate metabolism and the embryonic nervous system
    • [PubMed: 20836042]
    • M.E. Ross Gene-environment interactions, folate metabolism and the embryonic nervous system Wiley Interdiscip Rev Syst Biol Med 2 4 2010 47180 [PubMed: 20836042]
    • (2010) Wiley Interdiscip Rev Syst Biol Med , vol.2 , Issue.4 , pp. 47180
    • Ross, M.E.1
  • 5
    • 0025017481 scopus 로고
    • Diabetes mellitus during pregnancy and the risks for specific birth defects: A population-based case-control study
    • [PubMed: 2404255]
    • J.E. Becerra, M.J. Khoury, J.F. Cordero, and J.D. Erickson Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study Pediatrics 85 1 1990 1 9 [PubMed: 2404255]
    • (1990) Pediatrics , vol.85 , Issue.1 , pp. 1-9
    • Becerra, J.E.1    Khoury, M.J.2    Cordero, J.F.3    Erickson, J.D.4
  • 6
    • 0020820209 scopus 로고
    • Folic acid: Discovery and the exciting first decade
    • [PubMed: 6359053]
    • A.D. Welch Folic acid: discovery and the exciting first decade Perspect Biol Med 27 1 1983 64 75 [PubMed: 6359053]
    • (1983) Perspect Biol Med , vol.27 , Issue.1 , pp. 64-75
    • Welch, A.D.1
  • 7
    • 0026381733 scopus 로고
    • Antiepileptic drug therapy and reproductive consequences: Functional and morphologic effects
    • [PubMed:1807552]
    • S. Kaneko Antiepileptic drug therapy and reproductive consequences: functional and morphologic effects Reprod Toxicol 5 3 1991 179 198 [PubMed:1807552]
    • (1991) Reprod Toxicol , vol.5 , Issue.3 , pp. 179-198
    • Kaneko, S.1
  • 8
    • 0025863475 scopus 로고
    • Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study
    • Vitamin Study Research Group M. [PubMed:1677062]
    • MRC Vitamin Study Research Group Prevention of neural tube defects: results of the Medical Research Council Vitamin Study Lancet 338 8760 1991 131 137 [PubMed:1677062]
    • (1991) Lancet , vol.338 , Issue.8760 , pp. 131-137
  • 9
    • 0035124196 scopus 로고    scopus 로고
    • Genes, folate and homocysteine in embryonic development
    • [PubMed:11310424]
    • T.H. Rosenquist, and R.H. Finnell Genes, folate and homocysteine in embryonic development Proc Nutr Soc 60 1 2001 53 61 [PubMed:11310424]
    • (2001) Proc Nutr Soc , vol.60 , Issue.1 , pp. 53-61
    • Rosenquist, T.H.1    Finnell, R.H.2
  • 10
    • 34547199926 scopus 로고    scopus 로고
    • Relationship between dietary folate intakes, maternal plasma total homocysteine and B-vitamins during pregnancy and fetal growth in Japan
    • [PubMed:17623226]
    • H. Takimoto, N. Mito, K. Umegaki, A. Ishiwaki, K. Kusama, and S. Abe et al. Relationship between dietary folate intakes, maternal plasma total homocysteine and B-vitamins during pregnancy and fetal growth in Japan Eur J Nutr 46 5 2007 300 306 [PubMed:17623226]
    • (2007) Eur J Nutr , vol.46 , Issue.5 , pp. 300-306
    • Takimoto, H.1    Mito, N.2    Umegaki, K.3    Ishiwaki, A.4    Kusama, K.5    Abe, S.6
  • 11
    • 0028833677 scopus 로고
    • Homocysteine metabolism in pregnancies complicated by neural-tube defects
    • [PubMed: 7741859]
    • J.L. Mills, J.M. McPartlin, P.N. Kirke, Y.J. Lee, M.R. Conley, and D.G. Weir et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects Lancet 345 8943 1995 149 151 [PubMed: 7741859]
    • (1995) Lancet , vol.345 , Issue.8943 , pp. 149-151
    • Mills, J.L.1    McPartlin, J.M.2    Kirke, P.N.3    Lee, Y.J.4    Conley, M.R.5    Weir, D.G.6
  • 12
    • 33749428869 scopus 로고    scopus 로고
    • Neural tube defects and folate pathway genes: Family-based association tests of gene-gene and gene-environment interactions
    • [PubMed: 17035141]
    • A.L. Boyles, A.V. Billups, K.L. Deak, D.G. Siegel, L. Mehltretter, and S.H. Slifer et al. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions Environ Health Perspect 114 10 2006 1547 1552 [PubMed: 17035141]
    • (2006) Environ Health Perspect , vol.114 , Issue.10 , pp. 1547-1552
    • Boyles, A.L.1    Billups, A.V.2    Deak, K.L.3    Siegel, D.G.4    Mehltretter, L.5    Slifer, S.H.6
  • 13
    • 84867038698 scopus 로고    scopus 로고
    • Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: Evidence from 25 case-control studies
    • [PubMed: 23056169]
    • L. Yan, L. Zhao, Y. Long, P. Zou, G. Ji, and A. Gu et al. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies PLoS One 7 10 2012 e41689 [PubMed: 23056169]
    • (2012) PLoS One , vol.7 , Issue.10 , pp. 41689
    • Yan, L.1    Zhao, L.2    Long, Y.3    Zou, P.4    Ji, G.5    Gu, A.6
  • 14
    • 84875339212 scopus 로고    scopus 로고
    • Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population
    • [PubMed: 23489792]
    • Z.Z. Liu, J.T. Zhang, D. Liu, Y.H. Hao, B.M. Chang, and J. Xie et al. Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population Chin Med J (Engl) 126 5 2013 865 869 [PubMed: 23489792]
    • (2013) Chin Med J (Engl) , vol.126 , Issue.5 , pp. 865-869
    • Liu, Z.Z.1    Zhang, J.T.2    Liu, D.3    Hao, Y.H.4    Chang, B.M.5    Xie, J.6
  • 15
    • 0032893230 scopus 로고    scopus 로고
    • Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population
    • [PubMed: 10332959]
    • D. Trembath, A.L. Sherbondy, D.C. Vandyke, G.M. Shaw, K. Todoroff, and E.J. Lammer et al. Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population Teratology 59 5 1999 331 341 [PubMed: 10332959]
    • (1999) Teratology , vol.59 , Issue.5 , pp. 331-341
    • Trembath, D.1    Sherbondy, A.L.2    Vandyke, D.C.3    Shaw, G.M.4    Todoroff, K.5    Lammer, E.J.6
  • 16
    • 0042322356 scopus 로고    scopus 로고
    • Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida
    • [PubMed: 12749058]
    • I. Morin, R. Platt, I. Weisberg, N. Sabbaghian, Q. Wu, and T.A. Garrow et al. Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida Am J Med Genet 119A 2 2003 172 176 [PubMed: 12749058]
    • (2003) Am J Med Genet , vol.119 A , Issue.2 , pp. 172-176
    • Morin, I.1    Platt, R.2    Weisberg, I.3    Sabbaghian, N.4    Wu, Q.5    Garrow, T.A.6
  • 17
    • 0032448182 scopus 로고    scopus 로고
    • Susceptibility to spina bifida; An association study of five candidate genes
    • [PubMed: 10088035]
    • K. Morrison, C. Papapetrou, F.A. Hol, E.C. Mariman, S.A. Lynch, and J. Burn et al. Susceptibility to spina bifida; an association study of five candidate genes Ann Hum Genet 62 pt 5 1998 379 396 [PubMed: 10088035]
    • (1998) Ann Hum Genet , vol.62 , Issue.PART 5 , pp. 379-396
    • Morrison, K.1    Papapetrou, C.2    Hol, F.A.3    Mariman, E.C.4    Lynch, S.A.5    Burn, J.6
  • 18
    • 1942486384 scopus 로고    scopus 로고
    • Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locus
    • [PubMed: 15039923]
    • K.S. Brown, M. Cook, K. Hoess, A.S. Whitehead, and L.E. Mitchell Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locus Birth Defects Res A Clin Mol Teratol 70 3 2004 101 106 [PubMed: 15039923]
    • (2004) Birth Defects Res A Clin Mol Teratol , vol.70 , Issue.3 , pp. 101-106
    • Brown, K.S.1    Cook, M.2    Hoess, K.3    Whitehead, A.S.4    Mitchell, L.E.5
  • 19
    • 3543134109 scopus 로고    scopus 로고
    • A new method for estimating the risk ratio in studies using case-parental control design
    • [PubMed: 9801021]
    • F. Sun, W.D. Flanders, Q. Yang, and M.J. Khoury A new method for estimating the risk ratio in studies using case-parental control design Am J Epidemiol 148 9 1998 902 909 [PubMed: 9801021]
    • (1998) Am J Epidemiol , vol.148 , Issue.9 , pp. 902-909
    • Sun, F.1    Flanders, W.D.2    Yang, Q.3    Khoury, M.J.4
  • 20
    • 0033925716 scopus 로고    scopus 로고
    • Testing for linkage disequilibrium, maternal effects, and imprinting with (in) complete case-parent triads, by use of the computer program LEM
    • [PubMed: 10631165]
    • E.J. van Den Oord, and J.K. Vermunt Testing for linkage disequilibrium, maternal effects, and imprinting with (in) complete case-parent triads, by use of the computer program LEM Am J Hum Genet 66 1 2000 335 338 [PubMed: 10631165]
    • (2000) Am J Hum Genet , vol.66 , Issue.1 , pp. 335-338
    • Van Den Oord, E.J.1    Vermunt, J.K.2
  • 22
    • 0033365197 scopus 로고    scopus 로고
    • The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of the genetic risk and the relative importance of the genotypes of the embryo and the mother
    • [PubMed: 10090889]
    • D.C. Shields, P.N. Kirke, J.L. Mills, D. Ramsbottom, A.M. Molloy, and H. Burke et al. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of the genetic risk and the relative importance of the genotypes of the embryo and the mother Am J Hum Genet 64 4 1999 1045 1055 [PubMed: 10090889]
    • (1999) Am J Hum Genet , vol.64 , Issue.4 , 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
  • 24
    • 0035987006 scopus 로고    scopus 로고
    • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    • [PubMed: 12111380]
    • P. De Marco, M.G. Calevo, A. Moroni, L. Arata, E. Merello, and R.H. Finnell et al. Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population J Hum Genet 47 6 2002 319 324 [PubMed: 12111380]
    • (2002) J Hum Genet , vol.47 , Issue.6 , pp. 319-324
    • De Marco, P.1    Calevo, M.G.2    Moroni, A.3    Arata, L.4    Merello, E.5    Finnell, R.H.6
  • 25
    • 0344211885 scopus 로고    scopus 로고
    • Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico
    • [PubMed: 12431255]
    • L. González-Herrera, G. García-Escalante, I. Castillo-Zapata, J. Canto-Herrera, J. Ceballos-Quintal, and D. Pinto-Escalante et al. Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico Clin Genet 62 5 2002 394 398 [PubMed: 12431255]
    • (2002) Clin Genet , vol.62 , Issue.5 , pp. 394-398
    • González-Herrera, L.1    García-Escalante, G.2    Castillo-Zapata, I.3    Canto-Herrera, J.4    Ceballos-Quintal, J.5    Pinto-Escalante, D.6
  • 26
    • 0038294361 scopus 로고    scopus 로고
    • C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population
    • [PubMed: 12689549]
    • J.I.G. Revilla, F.N. Hernandez, M.T.C. Martin, M.T. Salvador, and J.G. Romero C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population Med Clin (Barc) 120 12 2003 441 445 [PubMed: 12689549]
    • (2003) Med Clin (Barc) , vol.120 , Issue.12 , pp. 441-445
    • Revilla, J.I.G.1    Hernandez, F.N.2    Martin, M.T.C.3    Salvador, M.T.4    Romero, J.G.5
  • 27
    • 0029968027 scopus 로고    scopus 로고
    • Is mutated MTHFR a risk factor for neural tube defects?
    • [PubMed: 8596396]
    • D.L. Posey, M.J. Khoury, J. Mulinare, M.J. Adams Jr., and C.Y. Ou Is mutated MTHFR a risk factor for neural tube defects? Lancet 347 9002 1996 686 687 [PubMed: 8596396]
    • (1996) Lancet , vol.347 , Issue.9002 , pp. 686-687
    • Posey, D.L.1    Khoury, M.J.2    Mulinare, J.3    Adams, Jr.M.J.4    Ou, C.Y.5
  • 28
    • 0029849703 scopus 로고    scopus 로고
    • Decreased methylene tetrahydrofolate reductase activity due to the 677C → T mutation in families with spina bifida offspring
    • [PubMed: 8956155]
    • N.M. van der Put, L.P. van den Heuvel, R.P. Steegers-Theunissen, F.J. Trijbels, T.K. Eskes, and E.C. Mariman et al. Decreased methylene tetrahydrofolate reductase activity due to the 677C → T mutation in families with spina bifida offspring J Mol Med (Berl) 74 11 1996 691 694 [PubMed: 8956155]
    • (1996) J Mol Med (Berl) , vol.74 , Issue.11 , pp. 691-694
    • Van Der Put, N.M.1    Van Den Heuvel, L.P.2    Steegers-Theunissen, R.P.3    Trijbels, F.J.4    Eskes, T.K.5    Mariman, E.C.6
  • 29
    • 0030864413 scopus 로고    scopus 로고
    • Altered folate and vitamin B12 metabolism in families with spina bifida offspring
    • [PubMed: 9327028]
    • N.M. van der Put, C.M. Thomas, T.K. Eskes, F.J. Trijbels, R.P. Steegers-Theunissen, and E.C. Mariman et al. Altered folate and vitamin B12 metabolism in families with spina bifida offspring QJM 90 8 1997 505 510 [PubMed: 9327028]
    • (1997) QJM , vol.90 , Issue.8 , pp. 505-510
    • Van Der Put, N.M.1    Thomas, C.M.2    Eskes, T.K.3    Trijbels, F.J.4    Steegers-Theunissen, R.P.5    Mariman, E.C.6
  • 30
    • 0029995347 scopus 로고    scopus 로고
    • Treatment of hyperhomocyst(e)inemia: Physiological basis
    • [PubMed: 8642469]
    • S.S. Kang Treatment of hyperhomocyst(e)inemia: physiological basis J Nutr 126 4 Suppl. 1996 1273S 1275S [PubMed: 8642469]
    • (1996) J Nutr , vol.126 , Issue.4 SUPPL.
    • Kang, S.S.1
  • 31
    • 0038124366 scopus 로고    scopus 로고
    • Investigations of a common genetic methyltransferase (BHMT) variant in betaine-homocysteine in coronary artery disease
    • [PubMed: 12818402]
    • I.S. Weisberg, E. Park, K.V. Ballman, P. Berger, M. Nunn, and D.S. Suh et al. Investigations of a common genetic methyltransferase (BHMT) variant in betaine-homocysteine in coronary artery disease Atherosclerosis 167 2 2003 205 214 [PubMed: 12818402]
    • (2003) Atherosclerosis , vol.167 , Issue.2 , pp. 205-214
    • Weisberg, I.S.1    Park, E.2    Ballman, K.V.3    Berger, P.4    Nunn, M.5    Suh, D.S.6
  • 32
    • 74049120835 scopus 로고    scopus 로고
    • Total folate and folic acid intake from foods and dietary supplements in the United States: 2003-2006
    • [PubMed: 19923379]
    • R.L. Bailey, K.W. Dodd, J.J. Gahche, J.T. Dwyer, M.A. McDowell, and E.A. Yetley et al. Total folate and folic acid intake from foods and dietary supplements in the United States: 2003-2006 Am J Clin 91 1 2010 231 237 [PubMed: 19923379]
    • (2010) Am J Clin , vol.91 , Issue.1 , pp. 231-237
    • Bailey, R.L.1    Dodd, K.W.2    Gahche, J.J.3    Dwyer, J.T.4    McDowell, M.A.5    Yetley, E.A.6
  • 34
    • 0034014432 scopus 로고    scopus 로고
    • Folic acid: Influence on the outcome of pregnancy
    • [PubMed: 10799405]
    • T.O. Scholl, and W.G. Johnson Folic acid: influence on the outcome of pregnancy Am J Clin Nutr 71 5 Suppl. 2000 1295S 1303S [PubMed: 10799405]
    • (2000) Am J Clin Nutr , vol.71 , Issue.5 SUPPL.
    • Scholl, T.O.1    Johnson, W.G.2
  • 35
    • 38849187353 scopus 로고    scopus 로고
    • Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada and the Motherrisk Program. Pre-conceptional vitamin/folic acid supplementation 2007: The use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies
    • R.D. Wilson, J.A. Johnson, P. Wyatt, V. Allen, A. Gagnon, and S. Langlois et al. Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada and The Motherrisk Program. Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies J Obstet Gynaecol Can 29 12 2007 1003 1026
    • (2007) J Obstet Gynaecol Can , vol.29 , Issue.12 , pp. 1003-1026
    • Wilson, R.D.1    Johnson, J.A.2    Wyatt, P.3    Allen, V.4    Gagnon, A.5    Langlois, S.6
  • 36
    • 0026413973 scopus 로고
    • Use of folic acid for prevention of spina bifida and other neural tube defects - 1983-1991
    • [PubMed: 2072886]
    • Centers for Disease Control Use of folic acid for prevention of spina bifida and other neural tube defects - 1983-1991 MMWR Morb Mortal Wkly Rep 40 3 1991 513 516 [PubMed: 2072886]
    • (1991) MMWR Morb Mortal Wkly Rep , vol.40 , Issue.3 , pp. 513-516


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