메뉴 건너뛰기




Volumn 143, Issue 9, 2007, Pages 952-960

Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: A meta-analysis

Author keywords

Cardiac anomalies; Cleft lip; Folic acid; Genes; Methylenetetrahydrofolate reductase (nadph2)

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); VITAMIN B GROUP;

EID: 34247844422     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31684     Document Type: Article
Times cited : (117)

References (59)
  • 3
    • 0034686437 scopus 로고    scopus 로고
    • No evidence supporting MTHFR as a risk factor in the development of familial NSCLP
    • Blanton SH, Kolle BS, Hecht JT, Mulliken JB, Martin ER. 2000. No evidence supporting MTHFR as a risk factor in the development of familial NSCLP. Am J Med Genet 92:370-371.
    • (2000) Am J Med Genet , vol.92 , pp. 370-371
    • Blanton, S.H.1    Kolle, B.S.2    Hecht, J.T.3    Mulliken, J.B.4    Martin, E.R.5
  • 4
    • 0037100024 scopus 로고    scopus 로고
    • MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate
    • Blanton SH, Patel S, Hecht JT, Mulliken JB. 2002. MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate. Am J Med Genet 110:404-405.
    • (2002) Am J Med Genet , vol.110 , pp. 404-405
    • Blanton, S.H.1    Patel, S.2    Hecht, J.T.3    Mulliken, J.B.4
  • 5
    • 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 151:862-877.
    • (2000) Am J Epidemiol , vol.151 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 6
    • 0034190437 scopus 로고    scopus 로고
    • Occurrence of congenital heart defects in relation to maternal multivitamin use
    • Botto LD, Mulinare J, Erickson JD. 2000. Occurrence of congenital heart defects in relation to maternal multivitamin use. Am J Epidemiol 151:878-884.
    • (2000) Am J Epidemiol , vol.151 , pp. 878-884
    • Botto, L.D.1    Mulinare, J.2    Erickson, J.D.3
  • 7
    • 0035289344 scopus 로고    scopus 로고
    • Racial and temporal variations in the prevalence of heart defects
    • Botto LD, Correa A, Erickson JD. 2001. Racial and temporal variations in the prevalence of heart defects. Pediatrics 107:E32.
    • (2001) Pediatrics , vol.107
    • Botto, L.D.1    Correa, A.2    Erickson, J.D.3
  • 8
    • 0032104612 scopus 로고    scopus 로고
    • Periconceptional folic acid containing multivitamin supplementation
    • Czeizel AE. 1998. Periconceptional folic acid containing multivitamin supplementation. Eur J Obstet Gynecol Reprod Biol 78:151-161.
    • (1998) Eur J Obstet Gynecol Reprod Biol , vol.78 , pp. 151-161
    • Czeizel, A.E.1
  • 11
    • 0036156638 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahy drofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women
    • Fohr IP, Prinz-Langenohl R, Bronstrup A, Bohlmann AM, Nau H. Berthold HK, Pietrzik K. 2002. 5,10-Methylenetetrahy drofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women. Am J Clin Nutr 75:275-282.
    • (2002) Am J Clin Nutr , vol.75 , pp. 275-282
    • Fohr, I.P.1    Prinz-Langenohl, R.2    Bronstrup, A.3    Bohlmann, A.M.4    Nau, H.5    Berthold, H.K.6    Pietrzik, K.7
  • 12
    • 84932732093 scopus 로고
    • Thoughts on the etiology of clefts of the palate and lip
    • Fraser FC. 1955. Thoughts on the etiology of clefts of the palate and lip. Acta Genet Stat Med 5:358-369.
    • (1955) Acta Genet Stat Med , vol.5 , pp. 358-369
    • Fraser, F.C.1
  • 13
    • 0029049553 scopus 로고    scopus 로고
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, Rozen R. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113.
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, Rozen R. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113.
  • 14
    • 0032751289 scopus 로고    scopus 로고
    • Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil
    • Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M. Steman S, Wyszynski DF, Matiolli SR. 1999. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil. Am J Med Genet 87:197-199.
    • (1999) Am J Med Genet , vol.87 , pp. 197-199
    • Gaspar, D.A.1    Pavanello, R.C.2    Zatz, M.3    Passos-Bueno, M.R.4    Andre, M.5    Steman, S.6    Wyszynski, D.F.7    Matiolli, S.R.8
  • 15
    • 4043169859 scopus 로고    scopus 로고
    • Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate
    • Gaspar DA, Matioli SR, de Cassia Pavanello R, Araujo BC, Alonso N, Wyszynski D, Passos-Bueno MR. 2004. Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur J Hum Genet 12:521-526.
    • (2004) Eur J Hum Genet , vol.12 , pp. 521-526
    • Gaspar, D.A.1    Matioli, S.R.2    de Cassia Pavanello, R.3    Araujo, B.C.4    Alonso, N.5    Wyszynski, D.6    Passos-Bueno, M.R.7
  • 16
    • 0036559471 scopus 로고    scopus 로고
    • Genetic differences in enzymes of folic acid metabolism in patients with lip-jaw-palate clefts and their relatives. [Genetische Unterschiede von Enzymen des Folsaurestoffwechsels bei Patienten mit Lippen-Riefer-Gaumen-Spalten und ihren Angehorigen]
    • Grunert RR, Braune A, Schnackenberg E, Schloot W, Krause HR. 2002. Genetic differences in enzymes of folic acid metabolism in patients with lip-jaw-palate clefts and their relatives. [Genetische Unterschiede von Enzymen des Folsaurestoffwechsels bei Patienten mit Lippen-Riefer-Gaumen-Spalten und ihren Angehorigen]. Mund Kiefer Gesichtschir 6:131-133.
    • (2002) Mund Kiefer Gesichtschir , vol.6 , pp. 131-133
    • Grunert, R.R.1    Braune, A.2    Schnackenberg, E.3    Schloot, W.4    Krause, H.R.5
  • 18
    • 0034735832 scopus 로고    scopus 로고
    • Folic acid antagonists during pregnancy and the risk of birth defects
    • Hernandez-Diaz S, Werler MM, Walker AM, Mitchell AA. 2000. Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med 343:1008-1614.
    • (2000) N Engl J Med , vol.343 , pp. 1008-1614
    • Hernandez-Diaz, S.1    Werler, M.M.2    Walker, A.M.3    Mitchell, A.A.4
  • 19
    • 13744256916 scopus 로고    scopus 로고
    • Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism
    • Hobbs CA, Cleves MA, Melnyk S, Zhao W, James SJ. 2005a. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am J Clin Nutr 81:147-153.
    • (2005) Am J Clin Nutr , vol.81 , pp. 147-153
    • Hobbs, C.A.1    Cleves, M.A.2    Melnyk, S.3    Zhao, W.4    James, S.J.5
  • 20
    • 27244440139 scopus 로고    scopus 로고
    • Congenital heart defects and maternal biomarkers of oxidative stress
    • Hobbs CA, Cleves MA, Zhao W, Melnyk S, James SJ. 2005b. Congenital heart defects and maternal biomarkers of oxidative stress. Am J Clin Nutr 82:598-604.
    • (2005) Am J Clin Nutr , vol.82 , pp. 598-604
    • Hobbs, C.A.1    Cleves, M.A.2    Zhao, W.3    Melnyk, S.4    James, S.J.5
  • 21
    • 29544453082 scopus 로고    scopus 로고
    • Congenital heart defects, maternal homocysteine, smoking, and the 677 C > T polymorphism in the methylenetetrahydrofolate reductase gene: Evaluating gene-environment interactions
    • Hobbs CA, James SJ, Jernigan S, Melnyk S, Lu Y, Malik S, Cleves MA. 2006a. Congenital heart defects, maternal homocysteine, smoking, and the 677 C > T polymorphism in the methylenetetrahydrofolate reductase gene: Evaluating gene-environment interactions. Am J Obstet Gynecol 194:218-224.
    • (2006) Am J Obstet Gynecol , vol.194 , pp. 218-224
    • Hobbs, C.A.1    James, S.J.2    Jernigan, S.3    Melnyk, S.4    Lu, Y.5    Malik, S.6    Cleves, M.A.7
  • 24
    • 0344826557 scopus 로고    scopus 로고
    • Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads
    • Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, Vindenes HA, Abyholm FE. 2003a. Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads. Genet Epidemiol 25:307-374.
    • (2003) Genet Epidemiol , vol.25 , pp. 307-374
    • Jugessur, A.1    Lie, R.T.2    Wilcox, A.J.3    Murray, J.C.4    Taylor, J.A.5    Saugstad, O.D.6    Vindenes, H.A.7    Abyholm, F.E.8
  • 25
    • 0038315197 scopus 로고    scopus 로고
    • Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads
    • Jugessur A, Wilcox AJ, Lie RT, Murray JC, Taylor JA, Ulvik A, Drevon CA, Vindenes HA, Abyholm FE. 2003b. Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157:1083-1091.
    • (2003) Am J Epidemiol , vol.157 , pp. 1083-1091
    • Jugessur, A.1    Wilcox, A.J.2    Lie, R.T.3    Murray, J.C.4    Taylor, J.A.5    Ulvik, A.6    Drevon, C.A.7    Vindenes, H.A.8    Abyholm, F.E.9
  • 31
    • 8144226263 scopus 로고    scopus 로고
    • A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase. Birth Defects Res A Clin Mol
    • McBride KL, Fernbach S, Menesses A, Molinari L, Quay E, Pignatelli R, Towbin JA, Belmont JW. 2004. A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase. Birth Defects Res A Clin Mol Teratol 70:825-830.
    • (2004) Teratol , vol.70 , pp. 825-830
    • McBride, K.L.1    Fernbach, S.2    Menesses, A.3    Molinari, L.4    Quay, E.5    Pignatelli, R.6    Towbin, J.A.7    Belmont, J.W.8
  • 32
    • 10644297327 scopus 로고    scopus 로고
    • Folate and DNA methylation during in utero development and aging
    • McKay JA, Williams EA, Mathers JC. 2004. Folate and DNA methylation during in utero development and aging. Biochem Soc Trans 32:1006-1007.
    • (2004) Biochem Soc Trans , vol.32 , pp. 1006-1007
    • McKay, J.A.1    Williams, E.A.2    Mathers, J.C.3
  • 34
    • 33646765346 scopus 로고    scopus 로고
    • Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
    • Mostowska A, Hozyasz KK, Jagodzinski PP. 2006. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Clin Genet 69:512-517.
    • (2006) Clin Genet , vol.69 , pp. 512-517
    • Mostowska, A.1    Hozyasz, K.K.2    Jagodzinski, P.P.3
  • 35
    • 2942754073 scopus 로고    scopus 로고
    • Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: The Hordaland Homocysteine Study
    • Nurk E, Tell GS, Refsum H, Ueland PM, Vollset SE. 2004. Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: The Hordaland Homocysteine Study. Am J Med 117:26-31.
    • (2004) Am J Med , vol.117 , pp. 26-31
    • Nurk, E.1    Tell, G.S.2    Refsum, H.3    Ueland, P.M.4    Vollset, S.E.5
  • 36
    • 26044456361 scopus 로고    scopus 로고
    • Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design
    • Pereira AC, Xavier-Neto J, Mesquita SM, Mota GF, Lopes AA, Krieger JE. 2005. Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design. Int J Cardiol 105:15-18.
    • (2005) Int J Cardiol , vol.105 , pp. 15-18
    • Pereira, A.C.1    Xavier-Neto, J.2    Mesquita, S.M.3    Mota, G.F.4    Lopes, A.A.5    Krieger, J.E.6
  • 38
    • 0036096518 scopus 로고    scopus 로고
    • Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate
    • Prescott NJ, Winter RM, Malcolm S. 2002. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet 39:368-369.
    • (2002) J Med Genet , vol.39 , pp. 368-369
    • Prescott, N.J.1    Winter, R.M.2    Malcolm, S.3
  • 40
    • 0028799948 scopus 로고
    • Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring
    • Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ. 1995. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 59:536-545.
    • (1995) Am J Med Genet , vol.59 , pp. 536-545
    • Shaw, G.M.1    O'Malley, C.D.2    Wasserman, C.R.3    Tolarova, M.M.4    Lammer, E.J.5
  • 41
    • 0031785528 scopus 로고    scopus 로고
    • Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip
    • Shaw GM, Rozen R, Finnell RH, Todoroff K, Lammer EJ. 1998. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 80:196-198.
    • (1998) Am J Med Genet , vol.80 , pp. 196-198
    • Shaw, G.M.1    Rozen, R.2    Finnell, R.H.3    Todoroff, K.4    Lammer, E.J.5
  • 42
    • 24344454621 scopus 로고    scopus 로고
    • Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes
    • Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ. 2005. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet Part A 138A:21-26.
    • (2005) Am J Med Genet , vol.138 A , Issue.PART A , pp. 21-26
    • Shaw, G.M.1    Iovannisci, D.M.2    Yang, W.3    Finnell, R.H.4    Carmichael, S.L.5    Cheng, S.6    Lammer, E.J.7
  • 43
    • 1542306682 scopus 로고    scopus 로고
    • Application of kinetic polymerase chain reaction and molecular beacon assays to pooled analyses and high-throughput genotyping for candidate genes. Birth Defects Res A Clin Mol
    • Shi M, Caprau D, Dagle J, Christiansen L, Christensen K, Murray JC. 2004. Application of kinetic polymerase chain reaction and molecular beacon assays to pooled analyses and high-throughput genotyping for candidate genes. Birth Defects Res A Clin Mol Teratol 70:65-74.
    • (2004) Teratol , vol.70 , pp. 65-74
    • Shi, M.1    Caprau, D.2    Dagle, J.3    Christiansen, L.4    Christensen, K.5    Murray, J.C.6
  • 44
    • 0042415793 scopus 로고    scopus 로고
    • Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip
    • Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. 2003. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40:e64.
    • (2003) J Med Genet , vol.40
    • Shotelersuk, V.1    Ittiwut, C.2    Siriwan, P.3    Angspatt, A.4
  • 47
    • 33645473405 scopus 로고    scopus 로고
    • Maternal MTHFR 677C > T is a risk factor for congenital heart defects: Effect modification by periconceptional folate supplementation
    • van Beynum IM, Kapusta L, den Heijer M, Vermeulen SH, Kouwenberg M, Daniels O, Blom HJ. 2006. Maternal MTHFR 677C > T is a risk factor for congenital heart defects: Effect modification by periconceptional folate supplementation. Eur Heart J 27:981-987.
    • (2006) Eur Heart J , vol.27 , pp. 981-987
    • van Beynum, I.M.1    Kapusta, L.2    den Heijer, M.3    Vermeulen, S.H.4    Kouwenberg, M.5    Daniels, O.6    Blom, H.J.7
  • 52
    • 20044382841 scopus 로고    scopus 로고
    • Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects
    • Part A
    • Vieira AR, Murray JC, Trembath D, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Lennon-Graham F, Speer M. 2005. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. Am J Med Genet Part A 135A:220-223.
    • (2005) Am J Med Genet , vol.135 A , pp. 220-223
    • Vieira, A.R.1    Murray, J.C.2    Trembath, D.3    Orioli, I.M.4    Castilla, E.E.5    Cooper, M.E.6    Marazita, M.L.7    Lennon-Graham, F.8    Speer, M.9
  • 55
    • 0035064154 scopus 로고    scopus 로고
    • Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations
    • Wenstrom KD, Johanning GL, Johnston KE, DuBard M. 2001. Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol 184:806-817.
    • (2001) Am J Obstet Gynecol , vol.184 , pp. 806-817
    • Wenstrom, K.D.1    Johanning, G.L.2    Johnston, K.E.3    DuBard, M.4
  • 57
    • 0029758424 scopus 로고    scopus 로고
    • Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts
    • Wyszynski DF, Beaty TH. 1996. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts. Teratology 53:309-317.
    • (1996) Teratology , vol.53 , pp. 309-317
    • Wyszynski, D.F.1    Beaty, T.H.2
  • 58
    • 0034193698 scopus 로고    scopus 로고
    • Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and risk of nonsyndromic cleft lip
    • Wyszynski DF, Diehl SR. 2000. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and risk of nonsyndromic cleft lip. Am J Med Genet 92:79-80.
    • (2000) Am J Med Genet , vol.92 , pp. 79-80
    • Wyszynski, D.F.1    Diehl, S.R.2
  • 59
    • 33644859355 scopus 로고    scopus 로고
    • Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
    • Zhu J, Ren A, Hao L, Pei L, Liu J, Zhu H, Li S, Finnell RH, Li Z. 2006. Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. Am J Med Genet Part A 140A:551-557.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 551-557
    • Zhu, J.1    Ren, A.2    Hao, L.3    Pei, L.4    Liu, J.5    Zhu, H.6    Li, S.7    Finnell, R.H.8    Li, Z.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.