메뉴 건너뛰기




Volumn 8, Issue 4, 2013, Pages

Genetic Variants in the Folate Pathway and the Risk of Neural Tube Defects: A Meta-Analysis of the Published Literature

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENOSINE; CYTIDINE; FOLIC ACID; GUANIDINE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; REDUCED FOLATE CARRIER; THYMIDINE;

EID: 84875963812     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0059570     Document Type: Article
Times cited : (74)

References (48)
  • 2
    • 33846056133 scopus 로고    scopus 로고
    • Folate and neural tube defects
    • Pitkin RM, (2007) Folate and neural tube defects. Am J Clin Nutr 85: 285S-288S.
    • (2007) Am J Clin Nutr , vol.85
    • Pitkin, R.M.1
  • 3
  • 6
    • 65649140113 scopus 로고    scopus 로고
    • Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force
    • Wolff T, Witkop CT, Miller T, Syed SB, (2009) Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force. Ann Intern Med 150: 632-639.
    • (2009) Ann Intern Med , vol.150 , pp. 632-639
    • Wolff, T.1    Witkop, C.T.2    Miller, T.3    Syed, S.B.4
  • 7
    • 0021950080 scopus 로고
    • Prevention of neural tube defects by improvement in maternal diet and preconceptional folic acid supplementation
    • Laurence KM, (1985) Prevention of neural tube defects by improvement in maternal diet and preconceptional folic acid supplementation. Prog Clin Biol Res 163B: 383-388.
    • (1985) Prog Clin Biol Res , vol.163 B , pp. 383-388
    • Laurence, K.M.1
  • 8
    • 23844541713 scopus 로고    scopus 로고
    • [Prevention of neural tube defects with periconceptional folic acid supplementation in Europe]
    • Christiansen M, Garne E, (2005) [Prevention of neural tube defects with periconceptional folic acid supplementation in Europe]. Ugeskr Laeger 167: 2875-2876.
    • (2005) Ugeskr Laeger , vol.167 , pp. 2875-2876
    • Christiansen, M.1    Garne, E.2
  • 9
    • 0033547440 scopus 로고    scopus 로고
    • Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention
    • Berry RJ, Li Z, Erickson JD, Li S, Moore CA, et al. (1999) Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 341: 1485-1490.
    • (1999) N Engl J Med , vol.341 , pp. 1485-1490
    • Berry, R.J.1    Li, Z.2    Erickson, J.D.3    Li, S.4    Moore, C.A.5
  • 10
    • 34247570440 scopus 로고    scopus 로고
    • Toward understanding the genetic basis of neural tube defects
    • Kibar Z, Capra V, Gros P, (2007) Toward understanding the genetic basis of neural tube defects. Clin Genet 71: 295-310.
    • (2007) Clin Genet , vol.71 , pp. 295-310
    • Kibar, Z.1    Capra, V.2    Gros, P.3
  • 12
    • 0347988053 scopus 로고    scopus 로고
    • Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect
    • Rothenberg SP, da Costa MP, Sequeira JM, Cracco J, Roberts JL, et al. (2004) Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect. N Engl J Med 350: 134-142.
    • (2004) N Engl J Med , vol.350 , pp. 134-142
    • Rothenberg, S.P.1    da Costa, M.P.2    Sequeira, J.M.3    Cracco, J.4    Roberts, J.L.5
  • 13
    • 0023214676 scopus 로고
    • Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?
    • Yates JR, Ferguson-Smith MA, Shenkin A, Guzman-Rodriguez R, White M, et al. (1987) Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? Clin Genet 31: 279-287.
    • (1987) Clin Genet , vol.31 , pp. 279-287
    • Yates, J.R.1    Ferguson-Smith, M.A.2    Shenkin, A.3    Guzman-Rodriguez, R.4    White, M.5
  • 15
    • 70349177596 scopus 로고    scopus 로고
    • Genetic basis of neural tube defects
    • Bassuk AG, Kibar Z, (2009) Genetic basis of neural tube defects. Semin Pediatr Neurol 16: 101-110.
    • (2009) Semin Pediatr Neurol , vol.16 , pp. 101-110
    • Bassuk, A.G.1    Kibar, Z.2
  • 16
    • 0344197480 scopus 로고    scopus 로고
    • Cancer pharmacogenetics: Polymorphisms, pathways and beyond
    • Ulrich CM, Robien K, McLeod HL, (2003) Cancer pharmacogenetics: Polymorphisms, pathways and beyond. Nature Reviews Cancer 3: 912-920.
    • (2003) Nature Reviews Cancer , vol.3 , pp. 912-920
    • Ulrich, C.M.1    Robien, K.2    McLeod, H.L.3
  • 17
    • 65349147023 scopus 로고    scopus 로고
    • The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects
    • Molloy AM, Brody LC, Mills JL, Scott JM, Kirke PN, (2009) The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 85: 285-294.
    • (2009) Birth Defects Res A Clin Mol Teratol , vol.85 , pp. 285-294
    • Molloy, A.M.1    Brody, L.C.2    Mills, J.L.3    Scott, J.M.4    Kirke, P.N.5
  • 18
    • 0035067094 scopus 로고    scopus 로고
    • Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
    • Richter B, Stegmann K, Roper B, Boddeker I, Ngo ET, et al. (2001) Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet 46: 105-109.
    • (2001) J Hum Genet , vol.46 , pp. 105-109
    • Richter, B.1    Stegmann, K.2    Roper, B.3    Boddeker, I.4    Ngo, E.T.5
  • 19
    • 70349331579 scopus 로고    scopus 로고
    • Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis
    • Collin SM, Metcalfe C, Zuccolo L, Lewis SJ, Chen L, et al. (2009) Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population-Based Nested Case-Control Study, Systematic Review, and Meta-analysis. Cancer Epidemiology Biomarkers & Prevention 18: 2528-2539.
    • (2009) Cancer Epidemiology Biomarkers & Prevention , vol.18 , pp. 2528-2539
    • Collin, S.M.1    Metcalfe, C.2    Zuccolo, L.3    Lewis, S.J.4    Chen, L.5
  • 21
    • 36048983814 scopus 로고    scopus 로고
    • Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression
    • Beaudin AE, Stover PJ, (2007) Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Today 81: 183-203.
    • (2007) Birth Defects Res C Embryo Today , vol.81 , pp. 183-203
    • Beaudin, A.E.1    Stover, P.J.2
  • 22
    • 0030886047 scopus 로고    scopus 로고
    • Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida
    • Bjorke-Monsen AL, Ueland PM, Schneede J, Vollset SE, Refsum H, (1997) Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida. QJM 90: 593-596.
    • (1997) QJM , vol.90 , pp. 593-596
    • Bjorke-Monsen, A.L.1    Ueland, P.M.2    Schneede, J.3    Vollset, S.E.4    Refsum, H.5
  • 23
    • 73949127068 scopus 로고    scopus 로고
    • Genetics and development of neural tube defects
    • Copp AJ, Greene ND, (2010) Genetics and development of neural tube defects. J Pathol 220: 217-230.
    • (2010) J Pathol , vol.220 , pp. 217-230
    • Copp, A.J.1    Greene, N.D.2
  • 24
    • 31344476035 scopus 로고    scopus 로고
    • Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population
    • Boduroǧlu K, (2005) Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population. The Turkish Journal of Pediatrics 47: 327-333.
    • (2005) The Turkish Journal of Pediatrics , vol.47 , pp. 327-333
    • Boduroǧlu, K.1
  • 25
    • 3042784787 scopus 로고    scopus 로고
    • Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study
    • Kirke PN, (2004) Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study. British Medical Journal 328: 1535-1536.
    • (2004) British Medical Journal , vol.328 , pp. 1535-1536
    • Kirke, P.N.1
  • 26
    • 0035987006 scopus 로고    scopus 로고
    • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
    • Marco PD, (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
    • Marco, P.D.1
  • 28
    • 0032125774 scopus 로고    scopus 로고
    • Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida
    • Shaw GM, Rozen R, Finnell RH, Wasserman CR, Lammer EJ, (1998) Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 148: 30-37.
    • (1998) Am J Epidemiol , vol.148 , pp. 30-37
    • Shaw, G.M.1    Rozen, R.2    Finnell, R.H.3    Wasserman, C.R.4    Lammer, E.J.5
  • 29
    • 1942469552 scopus 로고    scopus 로고
    • Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population
    • Relton CL, (2004) Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. Journal of Medical Genetics 41: 256-260.
    • (2004) Journal of Medical Genetics , vol.41 , pp. 256-260
    • Relton, C.L.1
  • 31
    • 17344370082 scopus 로고    scopus 로고
    • The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy
    • Franchis RD, (1998) The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet 35: 1009-1013.
    • (1998) J Med Genet , vol.35 , pp. 1009-1013
    • Franchis, R.D.1
  • 32
    • 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, et al. (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
  • 33
    • 84925548115 scopus 로고    scopus 로고
    • Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement
    • Moher D, Liberati A, Tetzlaff J, Altman DG, (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. J Clin Epidemiol 62: 1006-1012.
    • (2009) J Clin Epidemiol , vol.62 , pp. 1006-1012
    • Moher, D.1    Liberati, A.2    Tetzlaff, J.3    Altman, D.G.4
  • 34
    • 78951473482 scopus 로고    scopus 로고
    • Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system
    • Zintzaras E, Doxani C, Koufakis T, Kastanis A, Rodopoulou P, et al. (2011) Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system. BMC Medicine 9: 9.
    • (2011) BMC Medicine , vol.9 , pp. 9
    • Zintzaras, E.1    Doxani, C.2    Koufakis, T.3    Kastanis, A.4    Rodopoulou, P.5
  • 35
    • 24144436042 scopus 로고    scopus 로고
    • Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review
    • Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, et al. (2005) Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol 162: 201-211.
    • (2005) Am J Epidemiol , vol.162 , pp. 201-211
    • Thakkinstian, A.1    McEvoy, M.2    Minelli, C.3    Gibson, P.4    Hancox, B.5
  • 36
    • 0030922816 scopus 로고    scopus 로고
    • Bias in meta-analysis detected by a simple, graphical test
    • Egger M, Davey Smith G, Schneider M, Minder C, (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315: 629-634.
    • (1997) BMJ , vol.315 , pp. 629-634
    • Egger, M.1    Davey Smith, G.2    Schneider, M.3    Minder, C.4
  • 37
  • 38
    • 0037098178 scopus 로고    scopus 로고
    • How should meta-regression analyses be undertaken and interpreted?
    • Thompson SG, Higgins JP, (2002) How should meta-regression analyses be undertaken and interpreted? Stat Med 21: 1559-1573.
    • (2002) Stat Med , vol.21 , pp. 1559-1573
    • Thompson, S.G.1    Higgins, J.P.2
  • 39
    • 0029655527 scopus 로고    scopus 로고
    • Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid
    • Motulsky AG, (1996) Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet 58: 17-20.
    • (1996) Am J Hum Genet , vol.58 , pp. 17-20
    • Motulsky, A.G.1
  • 40
    • 0037117501 scopus 로고    scopus 로고
    • A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
    • Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, et al. (2002) A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A 99: 5606-5611.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 5606-5611
    • Friso, S.1    Choi, S.W.2    Girelli, D.3    Mason, J.B.4    Dolnikowski, G.G.5
  • 41
    • 58149195420 scopus 로고    scopus 로고
    • Neural tube defects: prevalence, etiology and prevention
    • Kondo A, Kamihira O, Ozawa H, (2009) Neural tube defects: prevalence, etiology and prevention. Int J Urol 16: 49-57.
    • (2009) Int J Urol , vol.16 , pp. 49-57
    • Kondo, A.1    Kamihira, O.2    Ozawa, H.3
  • 42
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, 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    Goyette, P.4    Sheppard, C.A.5
  • 43
    • 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
    • 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 NM, Eskes TK, Blom HJ, (1997) Is the common 677C->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM 90: 111-115.
    • (1997) QJM , vol.90 , pp. 111-115
    • van der Put, N.M.1    Eskes, T.K.2    Blom, H.J.3
  • 45
    • 34547678487 scopus 로고    scopus 로고
    • Non-Latin European descent could be a requirement for association of NTDs andMTHFR variant 677C > T: A meta-analysis
    • Amorim MR, Lima MAC, Castilla EE, Orioli IM, (2007) Non-Latin European descent could be a requirement for association of NTDs andMTHFR variant 677C > T: A meta-analysis. American Journal of Medical Genetics Part A 143A: 1726-1732.
    • (2007) American Journal of Medical Genetics Part A , vol.143 A , pp. 1726-1732
    • Amorim, M.R.1    Lima, M.A.C.2    Castilla, E.E.3    Orioli, I.M.4
  • 46
    • 0030018760 scopus 로고    scopus 로고
    • 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for Neural Tube Deffects
    • Ou CY, (1996) 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for Neural Tube Deffects. American Journal of Medical Genetics 63: 610-614.
    • (1996) American Journal of Medical Genetics , vol.63 , pp. 610-614
    • Ou, C.Y.1
  • 47
    • 0029822478 scopus 로고    scopus 로고
    • Cloning, mapping and RNA analysis of the human methionine synthase gene
    • Li YN, Gulati S, Baker PJ, Brody LC, Banerjee R, et al. (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene. Hum Mol Genet 5: 1851-1858.
    • (1996) Hum Mol Genet , vol.5 , pp. 1851-1858
    • Li, Y.N.1    Gulati, S.2    Baker, P.J.3    Brody, L.C.4    Banerjee, R.5
  • 48
    • 0038462011 scopus 로고    scopus 로고
    • Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency
    • Selzer RR, Rosenblatt DS, Laxova R, Hogan K, (2003) Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med 349: 45-50.
    • (2003) N Engl J Med , vol.349 , pp. 45-50
    • Selzer, R.R.1    Rosenblatt, D.S.2    Laxova, R.3    Hogan, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.