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Volumn 122, Issue 10, 2004, Pages 361-364

Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants;Frecuencia de la mutación 677C-T del gen de la metilentetrahidrofolato reductasa en una muestra de 652 recién nacidos de toda España

(73)  Martínez Frías, María Luisa a   Bermejo, Eva a   Rodríguez Pinilla, Elvira a   Scala, Iris b   Andria, Generoso b   Botto, Lorenzo c   Cuevas, L d   Aparicio, P d   Ariza, F d   Arroyo, I d   Ayala, A d   Barranco, F d   Blanco, M d   Bofarull, J M d   Calvo, M J d   Calvo, R d   Cardenes A d   Castro, S d   Contessotto, C d   Cortes M T d   more..

d NONE

Author keywords

Methylene tetrahydrofolate reductase; Mutation 677C T; T allele

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); THYMIDINE;

EID: 2342638932     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13059329     Document Type: Article
Times cited : (9)

References (23)
  • 1
    • 0023696435 scopus 로고
    • Intermediate homocisteinemia: A thermolabile variant of methylenetetrahydrofolate reductase
    • Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocisteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988;43:414-21.
    • (1988) Am J Hum Genet , vol.43 , pp. 414-421
    • Kang, S.S.1    Zhou, J.2    Wong, P.W.K.3    Kowalisyn, J.4    Strokosch, G.5
  • 2
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang SS, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991;48:536-45.
    • (1991) Am J Hum Genet , vol.48 , pp. 536-545
    • Kang, S.S.1    Wong, P.W.K.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Ruggie, N.6
  • 4
    • 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, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995;10:111-3.
    • (1995) Nature Genet , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3    Goyette, P.4    Sheppard, C.A.5    Matthews, R.G.6
  • 6
  • 7
    • 0030018760 scopus 로고    scopus 로고
    • 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
    • Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, et al. 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 1996;63:610-4.
    • (1996) Am J Med Genet , vol.63 , pp. 610-614
    • Ou, C.Y.1    Stevenson, R.E.2    Brown, V.K.3    Schwartz, C.E.4    Allen, W.P.5    Khoury, M.J.6
  • 8
    • 0030027668 scopus 로고    scopus 로고
    • Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocisteine concentrations
    • Jacques PF, Bostrom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocisteine concentrations. Circulation 1996;93:7-9.
    • (1996) Circulation , vol.93 , pp. 7-9
    • Jacques, P.F.1    Bostrom, A.G.2    Williams, R.R.3    Ellison, R.C.4    Eckfeldt, J.H.5    Rosenberg, I.H.6
  • 9
    • 0032771090 scopus 로고    scopus 로고
    • Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: A systematic review
    • Ray JG, Laskin CA. Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: a systematic review. Placenta 1999;20:519-29.
    • (1999) Placenta , vol.20 , pp. 519-529
    • Ray, J.G.1    Laskin, C.A.2
  • 10
    • 0036199911 scopus 로고    scopus 로고
    • High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): Relevance to genetic disease and polymorphisms
    • Ames BN, Elson-Schwab I, Silver EA. High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms. Am J Clin Nutr 2002;75:616-58.
    • (2002) Am J Clin Nutr , vol.75 , pp. 616-658
    • Ames, B.N.1    Elson-Schwab, I.2    Silver, E.A.3
  • 11
    • 0034190659 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
    • Botto LD, Yang Q. 5,10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000; 151:862-77.
    • (2000) Am J Epidemiol , vol.151 , pp. 862-877
    • Botto, L.D.1    Yang, Q.2
  • 12
    • 0033941114 scopus 로고    scopus 로고
    • Human genome epidemiologic reviews: The beginning of something HuGE
    • Khoury MJ, Little J. Human genome epidemiologic reviews: the beginning of something HuGE. Am J Epidemiol 2000;151:2-3.
    • (2000) Am J Epidemiol , vol.151 , pp. 2-3
    • Khoury, M.J.1    Little, J.2
  • 13
    • 0041326346 scopus 로고    scopus 로고
    • Geographic, ethnic, and gender variation of the C677T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): Findings from over 7,000 newborns from 16 areas worldwide
    • Botto LD, and the MTHFR group. Geographic, ethnic, and gender variation of the C677T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7,000 newborns from 16 areas worldwide. J Med Genet 2003; 40:619-25.
    • (2003) J Med Genet , vol.40 , pp. 619-625
    • Botto, L.D.1
  • 14
    • 0343503018 scopus 로고    scopus 로고
    • High prevalence of the termolabile methylenetetrahydrofolate reductase variant in Mexico: A country with a very high prevalence of neural tube defects
    • Mutchinick OM, López MA, Luna L, Waxman J, Babinsky VE. High prevalence of the termolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. Mol Genet Metabol 1999; 68:461-7.
    • (1999) Mol Genet Metabol , vol.68 , pp. 461-467
    • Mutchinick, O.M.1    López, M.A.2    Luna, L.3    Waxman, J.4    Babinsky, V.E.5
  • 15
    • 0034798859 scopus 로고    scopus 로고
    • Prevalence of the methylenetetrahydrofolate reductase 677C>T mutation in the Mediterranean Spanish population. Association with cardiovascular risk factors
    • Guillén M, Corella D, Portolés O, González JI, Mulet F, Saiz C. Prevalence of the methylenetetrahydrofolate reductase 677C>T mutation in the Mediterranean Spanish population. Association with cardiovascular risk factors. Europ J Epidemiol 2001;17:255-61.
    • (2001) Europ J Epidemiol , vol.17 , pp. 255-261
    • Guillén, M.1    Corella, D.2    Portolés, O.3    González, J.I.4    Mulet, F.5    Saiz, C.6
  • 16
    • 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
    • De Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, et al. The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet 1998;35:1009-13.
    • (1998) J Med Genet , vol.35 , pp. 1009-1013
    • De Franchis, R.1    Buoninconti, A.2    Mandato, C.3    Pepe, A.4    Sperandeo, M.P.5    Del Gado, R.6
  • 17
    • 0033969894 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase 677 C → T polymorphism, plasma folate, vitamin B(12) concentrations, and risk of preeclampsia among black African women from Zimbabwe
    • Rajkovic A, Mahomed K, Rozen R, Mahinow MR, King IB, Williams MA. Methylenetetrahydrofolate reductase 677 C → T polymorphism, plasma folate, vitamin B(12) concentrations, and risk of preeclampsia among black African women from Zimbabwe. Mol Genet Metab 2000;69:33-9.
    • (2000) Mol Genet Metab , vol.69 , pp. 33-39
    • Rajkovic, A.1    Mahomed, K.2    Rozen, R.3    Mahinow, M.R.4    King, I.B.5    Williams, M.A.6
  • 18
    • 0036766528 scopus 로고    scopus 로고
    • Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): Family-based association study in a Spanish population
    • González-Pérez E, Via M, López-Alomar A, Esteban E, Valveny N, Bao M, et al. Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family-based association study in a Spanish population. Clin Genet 2002;62:235-9.
    • (2002) Clin Genet , vol.62 , pp. 235-239
    • González-Pérez, E.1    Via, M.2    López-Alomar, A.3    Esteban, E.4    Valveny, N.5    Bao, M.6
  • 20
    • 85030885246 scopus 로고    scopus 로고
    • Polimorfismo C677T del gen de la metilenotetrahidrofolato reductasa en mujeres gestantes
    • Escudero MT, Ballesteros G, León J. Polimorfismo C677T del gen de la metilenotetrahidrofolato reductasa en mujeres gestantes. Prog Obstet Ginecol 2003;46:234-44.
    • (2003) Prog Obstet Ginecol , vol.46 , pp. 234-244
    • Escudero, M.T.1    Ballesteros, G.2    León, J.3
  • 22
    • 0009851388 scopus 로고
    • Impacto del diagnóstico prenatal sobre la frecuencia al nacimiento de los defectos del tubo neural en España
    • Martínez-Frías ML, Bermejo E. Impacto del diagnóstico prenatal sobre la frecuencia al nacimiento de los defectos del tubo neural en España. Prog Diagn Pren 1995;7:397-406.
    • (1995) Prog Diagn Pren , vol.7 , pp. 397-406
    • Martínez-Frías, M.L.1    Bermejo, E.2
  • 23
    • 0026773347 scopus 로고
    • Prevalence of congenital anomaly syndromes in a Spanish gipsy population
    • Martínez-Frías ML, Bermejo E. Prevalence of congenital anomaly syndromes in a Spanish gipsy population. J Med Genet 1992;29:483-6.
    • (1992) J Med Genet , vol.29 , pp. 483-486
    • Martínez-Frías, M.L.1    Bermejo, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.