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Volumn 15, Issue 1-2, 2011, Pages 51-57

Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

EID: 79951993639     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0057     Document Type: Article
Times cited : (28)

References (58)
  • 1
    • 0141891858 scopus 로고    scopus 로고
    • Prevalence and role of methylenetetrahydrofolate reductase 677 C>T and 1298 A>C polymorphisms in coronary artery disease in Arabs
    • Abu-Amero KK, Wyngaard CA, Dzimiri N (2003) Prevalence and role of methylenetetrahydrofolate reductase 677c>t and 1298a>c polymorphisms in coronary artery disease in Arabs. Arch Pathol Lab Med 127:1349-1352. (Pubitemid 37248335)
    • (2003) Archives of Pathology and Laboratory Medicine , vol.127 , Issue.10 , pp. 1349-1352
    • Abu-Amero, K.K.1    Wyngaard, C.A.2    Dzimiri, N.3
  • 3
    • 0031425426 scopus 로고    scopus 로고
    • Lack of checkpoint control at the metaphase/anaphase transition: A mechanism of meiotic nondisjunction in mammalian females
    • DOI 10.1083/jcb.139.7.1611
    • Adkins RL, Radke K, Hunt PA (1997) Lack of checkpoint control at the metaphase/anaphase transition: a mechanism of meiotic nondisjunction in mammalian females. J Cell Biol 139:1611-1619. (Pubitemid 28079227)
    • (1997) Journal of Cell Biology , vol.139 , Issue.7 , pp. 1611-1619
    • LeMaire-Adkins, R.1    Radke, K.2    Hunt, P.A.3
  • 4
    • 0035479285 scopus 로고    scopus 로고
    • Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with DS and neural tube defect
    • Al-Gazali LI, Padmanabhan R, Melynk P, et al. (2001) Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with DS and neural tube defect. Am J Med Genet 103:128-132.
    • (2001) Am J Med Genet , vol.103 , pp. 128-132
    • Al-Gazali, L.I.1    Padmanabhan, R.2    Melynk, P.3
  • 5
    • 71049132187 scopus 로고    scopus 로고
    • Effect of methotrexate on the survival of human lymphocyte cultures carrying MTHFR 677 (C>T) and MTHFR 1298 (A>C)
    • Al-Refai EA, Sadiq MF, Khasawneh M, et al. (2009) Effect of methotrexate on the survival of human lymphocyte cultures carrying MTHFR 677 (C>T) and MTHFR 1298 (A>C) Mutat Drug Chem Toxicol 32:103-107.
    • (2009) Mutat Drug Chem Toxicol , vol.32 , pp. 103-107
    • Al-Refai, E.A.1    Sadiq, M.F.2    Khasawneh, M.3
  • 9
    • 4243116886 scopus 로고    scopus 로고
    • Down syndrome
    • Jameson JL (ed) Humana Press Inc., Totowa, NJ
    • Antonarakis SE (1998) Down syndrome. In: Jameson JL (ed) Principles of Molecular Medicine. Humana Press Inc., Totowa, NJ, pp 1069-1078.
    • (1998) Principles of Molecular Medicine , pp. 1069-1078
    • Antonarakis, S.E.1
  • 10
    • 69249211287 scopus 로고    scopus 로고
    • Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease
    • Bi XH, Zhao HL, Zhang ZX, et al. (2009) Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease. Neurobiol Aging 30:1601-1607.
    • (2009) Neurobiol Aging , vol.30 , pp. 1601-1607
    • Bi, X.H.1    Zhao, H.L.2    Zhang, Z.X.3
  • 11
    • 3142777011 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
    • Boduroglu K, Alanay Y, Koldan B, et al. (2004) Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet 127:5-10. (Pubitemid 38937198)
    • (2004) American Journal of Medical Genetics , vol.127 A , Issue.1 , pp. 5-10
    • Boduroglu, K.1    Alanay, Y.2    Koldan, B.3    Tuncbilek, E.4
  • 12
    • 33749988447 scopus 로고    scopus 로고
    • Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression
    • DOI 10.1016/j.leukres.2006.01.016, PII S014521260600052X
    • Bolufer P, Barragan EM, Collado J, et al. (2006) Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression. Leuk Res 30:1471-1491. (Pubitemid 44573473)
    • (2006) Leukemia Research , vol.30 , Issue.12 , pp. 1471-1491
    • Bolufer, P.1    Barragan, E.2    Collado, M.3    Cervera, J.4    Lopez, J.-A.5    Sanz, M.A.6
  • 13
    • 67449143173 scopus 로고    scopus 로고
    • IVF outcomes are associated with biomarkers of the homocysteine pathway in monofollicular fluid
    • Boxmeer JC, Macklon NS, Lindemans J, et al. (2009) IVF outcomes are associated with biomarkers of the homocysteine pathway in monofollicular fluid. Hum Reprod 24:1059-1066.
    • (2009) Hum Reprod , vol.24 , pp. 1059-1066
    • Boxmeer, J.C.1    Macklon, N.S.2    Lindemans, J.3
  • 17
    • 70249132588 scopus 로고    scopus 로고
    • MTHFR Gene variants C677T, A1298C and association with Down syndrome: A case-control study from South India
    • Cyril C, Rai P, Chandra N, et al. (2009) MTHFR Gene variants C677T, A1298C and association with Down syndrome: a case-control study from South India. Ind J Hum Genet 15:60-64.
    • (2009) Ind J Hum Genet , vol.15 , pp. 60-64
    • Cyril, C.1    Rai, P.2    Chandra, N.3
  • 18
    • 0000089059 scopus 로고    scopus 로고
    • Down syndrome
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 8th edition. McGraw-Hill, NewYork
    • Epstein CJ (2001) Down syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, Vol. 1, 8th edition. McGraw-Hill, NewYork, pp 1223-1256.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.1 , pp. 1223-1256
    • Epstein, C.J.1
  • 19
    • 2642701740 scopus 로고    scopus 로고
    • Analysis of the 677 C>T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups
    • Franco RF, Araujo AG, Guerreiro JF, et al. (1998) Analysis of the 677C→T mutation in the methylenetetrahydrofolate reductase gene in different ethnic groups. Thromb Haemost 79:119-121. (Pubitemid 28037069)
    • (1998) Thrombosis and Haemostasis , vol.79 , Issue.1 , pp. 119-121
    • Franco, R.F.1    Araujo, A.G.2    Guerreiro, J.F.3    Elion, J.4    Zago, M.A.5
  • 21
    • 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
  • 23
    • 33646166386 scopus 로고    scopus 로고
    • Effect of B vitamins and genetics on success of in-vitro fertilisation: Prospective cohort study
    • Haggarty P, McCallum H, McBain H, et al. (2006) Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study. Lancet 367:1513-1519.
    • (2006) Lancet , vol.367 , pp. 1513-1519
    • Haggarty, P.1    McCallum, H.2    McBain, H.3
  • 24
    • 0035319804 scopus 로고    scopus 로고
    • To err (meiotically) is human: The genesis of human aneuploidy
    • DOI 10.1038/35066065
    • Hassold T, Hunt P (2001) To err (meiotically) is human: the genesis of human aneuploidy. (Review) Nat Rev Genet 2:280-291. (Pubitemid 33674776)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.4 , pp. 280-291
    • Hassold, T.1    Hunt, P.2
  • 25
    • 0034001512 scopus 로고    scopus 로고
    • Down syndrome: Genetic recombination and the origin of the extra chromosome 21
    • DOI 10.1034/j.1399-0004.2000.570201.x
    • Hassold T, Sherman S. (2000) Down syndrome: genetic recombination and the origin of the extra chromosome 21. Clin Genet 57:95-100. (Pubitemid 30116586)
    • (2000) Clinical Genetics , vol.57 , Issue.2 , pp. 95-100
    • Hassold, T.1    Sherman, S.2
  • 27
    • 0033813493 scopus 로고    scopus 로고
    • Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene
    • Homberger A, Linnebank M, Winter C, et al. (2000) Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Eur J Hum Genet 8:725-729.
    • (2000) Eur J Hum Genet , vol.8 , pp. 725-729
    • Homberger, A.1    Linnebank, M.2    Winter, C.3
  • 29
    • 77949562815 scopus 로고    scopus 로고
    • Genetic selection? A study of individual variation in the enzymes of folate metabolism
    • Jennings BA, Willis GA, Skinner J, et al. (2010) Genetic selection? A study of individual variation in the enzymes of folate metabolism. BMC Med Genet 11:18-23.
    • (2010) BMC Med Genet , vol.11 , pp. 18-23
    • Jennings, B.A.1    Willis, G.A.2    Skinner, J.3
  • 31
    • 58149326891 scopus 로고    scopus 로고
    • Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome
    • Kohli U, Arora S, Kabra M, et al. (2008) Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Downs Syndr Res Pract 12:133-137.
    • (2008) Downs Syndr Res Pract , vol.12 , pp. 133-137
    • Kohli, U.1    Arora, S.2    Kabra, M.3
  • 32
    • 27144526086 scopus 로고    scopus 로고
    • Genetic polymorphisms of methylenetetrahydrofolate reductase and colorectal cancer and adenoma
    • DOI 10.1111/j.1349-7006.2005.00090.x
    • Kono S, Chen K (2005) Genetic polymorphisms of methylenetetrahydrofolate reductase and colorectal cancer and adenoma. Cancer Sci 96:535-542. (Pubitemid 41488416)
    • (2005) Cancer Science , vol.96 , Issue.9 , pp. 535-542
    • Kono, S.1    Chen, K.2
  • 33
    • 34547973144 scopus 로고    scopus 로고
    • Genetic polymorphisms in folate metabolizing enzymes and risk of gastroesophageal cancers: A potential nutrient-gene interaction in cancer development
    • Lin D,. Li HW, Tan X, et al. (2007) Genetic polymorphisms in folate metabolizing enzymes and risk of gastroesophageal cancers: a potential nutrient-gene interaction in cancer development. Forum Nutr 60:140-145.
    • (2007) Forum Nutr , vol.60 , pp. 140-145
    • Lin, D.1    Li, H.W.2    Tan, X.3
  • 35
    • 44449165550 scopus 로고    scopus 로고
    • The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome
    • Martínez-Frías ML (2008) The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome. Am J Med Genet Part A 146A:1477-1482.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 1477-1482
    • Martínez-Frías, M.L.1
  • 36
    • 36549006514 scopus 로고    scopus 로고
    • MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children
    • Meguid NA, Dardir AA, Khass M, et al. (2008) MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children. Dis Markers 24:19-26. (Pubitemid 350176507)
    • (2008) Disease Markers , vol.24 , Issue.1 , pp. 19-26
    • Meguid, N.A.1    Dardir, A.A.2    Khass, M.3    El, H.L.4    Ezzat, A.5    El, A.M.K.6
  • 37
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 38
    • 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, et al. (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
  • 39
    • 0031429097 scopus 로고    scopus 로고
    • Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    • DOI 10.1007/s004390050544
    • Mornet E, Muller F, Lenvoise-Furet A 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. (Pubitemid 28072347)
    • (1997) Human Genetics , vol.100 , Issue.5-6 , pp. 512-514
    • Mornet, E.1    Muller, F.2    Lenvoise-Furet, A.3    Delezoide, A.-L.4    Col, J.-Y.5    Simon-Bouy, B.6    Serre, J.-L.7
  • 40
    • 0036488108 scopus 로고    scopus 로고
    • A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians
    • DOI 10.1034/j.1399-0004.2002.610212.x
    • Mukherjee M, Joshi S, Bagadi S, et al. (2002) A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clin Genet 61:155-159. (Pubitemid 36372622)
    • (2002) Clinical Genetics , vol.61 , Issue.2 , pp. 155-159
    • Mukherjee, M.1    Joshi, S.2    Bagadi, S.3    Dalvi, M.4    Rao, A.5    Shetty, K.R.6
  • 42
    • 0037079894 scopus 로고    scopus 로고
    • MTRR and MTHFR polymorphism: Link to Down syndrome?
    • O'Leary V, McDermott A, Molloy A, et al. (2002) MTRR and MTHFR polymorphism: link to Down syndrome? Am J Med Genet 107:151-155.
    • (2002) Am J Med Genet , vol.107 , pp. 151-155
    • O'Leary, V.1    McDermott, A.2    Molloy, A.3
  • 43
    • 0029886679 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase and neural tube defects [5]
    • Papapetrou C, Lynch SA, Burn J, et al. (1996) Methylenetetrahydrofolate reductase and neural tube defects. Lancet 348:58. (Pubitemid 26237251)
    • (1996) Lancet , vol.348 , Issue.9019 , pp. 58
    • Papapetrou, C.1    Lynch, S.A.2    Burn, J.3    Edwards, Y.H.4
  • 44
    • 0034487971 scopus 로고    scopus 로고
    • Nondisjunction in trisomy 21: Origin andmechanisms
    • review.
    • Petersen MB, Mikkelsen M (2000) Nondisjunction in trisomy 21: origin andmechanisms. Cytogenet Cell Genet. 91:199-203 (review).
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 199-203
    • Petersen, M.B.1    Mikkelsen, M.2
  • 45
    • 33646449190 scopus 로고    scopus 로고
    • MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
    • Rai A, Singh S, Mehta S, et al. (2006) MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. J Hum Genet 51:278-283.
    • (2006) J Hum Genet , vol.51 , pp. 278-283
    • Rai, A.1    Singh, S.2    Mehta, S.3
  • 46
    • 0001912321 scopus 로고    scopus 로고
    • Inherited disorders of folate and cobalamin transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 8th edition. McGraw Hill, New York
    • Rosenblatt DS, Fenton WA (2001) Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edition. McGraw Hill, New York, pp 3897-3933.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3897-3933
    • Rosenblatt, D.S.1    Fenton, W.A.2
  • 49
    • 0037327691 scopus 로고    scopus 로고
    • Gene polymorphism and folate metabolism: A maternal risk factor for Down syndrome
    • Sheth J, Sheth F (2003) Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome. Indian Pediatr 40:115-123. (Pubitemid 36253961)
    • (2003) Indian Pediatrics , vol.40 , Issue.2 , pp. 115-123
    • Sheth, J.J.1    Sheth, F.J.2
  • 51
    • 21744440262 scopus 로고    scopus 로고
    • Folate metabolism and cardiovascular disease
    • DOI 10.1055/s-2005-872395
    • Smulders YM, Stehouwer CD (2005) Folate metabolism and cardiovascular disease. Semin Vasc Med 5:87-97. (Pubitemid 40944285)
    • (2005) Seminars in Vascular Medicine , vol.5 , Issue.2 , pp. 87-97
    • Smulders, Y.M.1    Stehouwer, C.D.A.2
  • 52
    • 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
    • Speer MC, Warley G, Mackey JF, et al. (1997) The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defects in American Caucasians. Neurogenetics 1:149-150. (Pubitemid 127709623)
    • (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
  • 53
    • 49449114648 scopus 로고    scopus 로고
    • Homocysteine, MTHFR gene polymorphisms and cardio-cerebrovascular risk
    • Trabetti E (2008) Homocysteine, MTHFR gene polymorphisms and cardio-cerebrovascular risk. J Appl Genet 49:267-282.
    • (2008) J Appl Genet , vol.49 , pp. 267-282
    • Trabetti, E.1
  • 54
    • 0028844492 scopus 로고
    • Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
    • Van der Put NM, Steegers-Theunissen RPM, et al. (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071.
    • (1995) Lancet , vol.346 , pp. 1070-1071
    • Van Der Put, N.M.1    Steegers-Theunissen, R.P.M.2
  • 56
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate redutase gene: An additional risk factor for neural - Tube defects?
    • Van der Put NMJ, Gabreels F, Stevens EMB, et al. (1998) A second common mutation in the methylenetetrahydrofolate redutase 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.J.1    Gabreels, F.2    Stevens, E.M.B.3
  • 57
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • DOI 10.1006/mgme.1998.2714
    • Weisberg I, Tran P, Christensen B (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet 64:169-172. (Pubitemid 28453294)
    • (1998) Molecular Genetics and Metabolism , vol.64 , Issue.3 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 58
    • 0032560374 scopus 로고    scopus 로고
    • Heterozygote advantage of the MTHFR gene in patients with neural-tube defect and their relatives
    • DOI 10.1016/S0140-6736(05)61119-1
    • Wetkamp LR, Tackels DC, Hunter AGW, et al. (1998) Heterozygote advantage of the MTHFR gene in patients with neural-tube defects and their relatives. Lancet 351:1554-1555. (Pubitemid 28230893)
    • (1998) Lancet , vol.351 , Issue.9115 , pp. 1554-1555
    • Weitkamp, L.R.1    Tackels, D.C.2    Hunter, A.G.W.3    Holmes, L.B.4    Schwartz, C.E.5


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