메뉴 건너뛰기




Volumn 66, Issue 1, 2012, Pages 111-118

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population

Author keywords

folic acid; hyperhomocysteinemia; Indian population; MTHFR; RFC1; vitamin B12

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE;

EID: 84855489640     PISSN: 09543007     EISSN: 14765640     Source Type: Journal    
DOI: 10.1038/ejcn.2011.152     Document Type: Article
Times cited : (48)

References (46)
  • 2
    • 67651034400 scopus 로고    scopus 로고
    • MTHFR C677T alone and irf6 820gg together with mthfr 677ct but not mthfr a1298c are risk for nonsyndromic cleft lip with or without cleft palate in an indian population
    • Ali A, Singh SK, Raman R.2009). MTHFR C677T alone and IRF6 820GG Together, with MTHFR 677CT, But not MTHFR A1298C, are risk for Nonsyndromic Cleft Lip with or without Cleft Palate in an Indian Population. Genet Test Mol Bioma 13, 1-6.
    • (2009) Genet. Test. Mol. Bioma. , vol.13 , pp. 1-6
    • Ali, A.1    Singh, S.K.2    Raman, R.3
  • 3
    • 49349102119 scopus 로고    scopus 로고
    • Association betwen decreased vitamin levels and MTHFR MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women
    • Barbosa PR, Stabler SP, Machado ALK, Braga RC, Hirata MH, Sampaio- Neto LF et al.2008). Association betwen decreased vitamin levels and MTHFR, MTR, and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women. Eup J Clin Nutr 62, 1010-1021.
    • (2008) Eup. J. Clin. Nutr. , vol.62 , pp. 1010-1021
    • Barbosa, P.R.1    Stabler, S.P.2    Machado, A.L.K.3    Braga, R.C.4    Hirata, M.H.5    Sampaio- Neto, L.F.6
  • 4
    • 0031727632 scopus 로고    scopus 로고
    • Effects of folic acid and combinations of folic acid and vitamin B-12 on plasma homocysteine concentrations in healthy, young women
    • Bronstrup A, Hages M, Prinz-Langenohl R, Pietrzik K.1998). Effects of folic acid and combinations of folic acid and vitamin B-12 on plasma homocysteine concentrations in healthy, young women. Am J Clin Nutr 6s, 1104-1110. (Pubitemid 28493973)
    • (1998) American Journal of Clinical Nutrition , vol.68 , Issue.5 , pp. 1104-1110
    • Bronstrup, A.1    Hages, M.2    Prinz-Langenohl, R.3    Pietrzik, K.4
  • 7
    • 0033805360 scopus 로고    scopus 로고
    • A Polymorphism (80G-4 A) in the reduced folate carrier gene and its association with folate status and Homocysteinemia
    • Chango A, Filon NE, de Courcy GP, Lambert D, Pfister M, Rosenblatt DS et al.2000). A Polymorphism (80G-4 A) in the reduced folate carrier gene and its association with folate status and Homocysteinemia. Mol Gen Met 70, 310-315.
    • (2000) Mol. Gen. Met. , vol.70 , pp. 310-315
    • Chango, A.1    Filon, N.E.2    De Courcy, G.P.3    Lambert, D.4    Pfister, M.5    Rosenblatt, D.S.6
  • 8
    • 84855510494 scopus 로고    scopus 로고
    • The complex relationship between folate/ homoysteine metabolism and risk of Down syndrome
    • Coppede F (2009). The complex relationship between folate/ homoysteine metabolism and risk of Down syndrome. Mutat Res Rev 7933, 1-17.
    • (2009) Mutat. Res. Rev. , vol.7933 , pp. 1-17
    • Coppede, F.1
  • 9
    • 33746130404 scopus 로고    scopus 로고
    • G80A reduced folate carrier SNP influences the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population
    • DOI 10.1016/j.lfs.2006.05.009, PII S0024320506003870
    • Dufficy L, Naumovski N, Ng X, Blades B, Yates Z, Travers C et al.2006). G80A reduced folate carrier SNP influences the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population. Life Sci 79, 957-966. (Pubitemid 44081790)
    • (2006) Life Sciences , vol.79 , Issue.10 , pp. 957-966
    • Dufficy, L.1    Naumovski, N.2    Ng, X.3    Blades, B.4    Yates, Z.5    Travers, C.6    Lewis, P.7    Sturm, J.8    Veysey, M.9    Roach, P.D.10    Lucock, M.D.11
  • 11
    • 65549165177 scopus 로고    scopus 로고
    • Vitamin B-12 and homocysteine status among vegetarians: A global perspective
    • Elmadfa I, Singer I (2009). Vitamin B-12 and homocysteine status among vegetarians: A global perspective. Am J Clin Nutr 89 (suppl), 1693s-1698s.
    • (2009) Am. J. Clin. Nutr. , vol.89
    • Elmadfa, I.1    Singer, I.2
  • 12
    • 34848881628 scopus 로고    scopus 로고
    • Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism
    • DOI 10.1002/humu.20522
    • Fredriksen A, Meyer K, Ueland PM, Vollset SE, Grotmol T, Schneede J.2007). Large Scale Population-Based Metabolic Phenotyping of Thirteen Genetic Polymorphisms Related to One-Carbon Metabolism. Hum Mut 28, 856-865. (Pubitemid 47579935)
    • (2007) Human Mutation , vol.28 , Issue.9 , pp. 856-865
    • Fredriksen, A.1    Meyer, K.2    Ueland, P.M.3    Vollset, S.E.4    Grotmol, T.5    Schneede, J.6
  • 17
    • 34247589073 scopus 로고    scopus 로고
    • The methylenetetrahydrofolate reductase 677C→T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism
    • DOI 10.1086/513520
    • Hustad S, Midttum O, Schneede J, Vollset SE, Grotmol T, Ueland PM (2007). The Methylenetetrahydofolate reductase 677C-T Polymorphisms has a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism. Am J Hum Genet 80, 846-855. (Pubitemid 46668453)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.5 , pp. 846-855
    • Hustad, S.1    Midttun, O.2    Schneede, J.3    Vollset, S.E.4    Grotmol, T.5    Ueland, P.M.6
  • 21
    • 28844467623 scopus 로고    scopus 로고
    • Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population
    • DOI 10.1007/s10038-005-0313-1
    • Kumar J, Das SK, Sharma P, Karthikeyan G, Ramakrishnan L, Sengupta S.2005). Homocysteine levels are associated with MTHFR A1298C polymorphisms in Indian population. J Hum Genet 50, 655-663. (Pubitemid 41768787)
    • (2005) Journal of Human Genetics , vol.50 , Issue.12 , pp. 655-663
    • Kumar, J.1    Das, S.K.2    Sharma, P.3    Karthikeyan, G.4    Ramakrishnan, L.5    Sengupta, S.6
  • 22
    • 77951685855 scopus 로고    scopus 로고
    • Cystathionine b-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population
    • Kumar J, Garg G, Karthikeyan G, Sengupta S.2010). Cystathionine b-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population. Biomarkers 15, 283-287.
    • (2010) Biomarkers , vol.15 , pp. 283-287
    • Kumar, J.1    Garg, G.2    Karthikeyan, G.3    Sengupta, S.4
  • 23
    • 77449105718 scopus 로고    scopus 로고
    • Single Nucleotide Polymorphisms in Homocysteine Metabolism Pathway Genes: Association of CHDH A119C and MTHFR C677T with Hyperhomocysteinemia
    • Kumar J, Garg G, Kuamar A, Sundaramoorthy E, Sanapala KR, Ghosh S et al.2009a). Single Nucleotide Polymorphisms in Homocysteine Metabolism Pathway Genes: Association of CHDH A119C and MTHFR C677T with Hyperhomocysteinemia. Circ Cardiovasc Genet 2, 599-606.
    • (2009) Circ. Cardiovasc Genet. , vol.2 , pp. 599-606
    • Kumar, J.1    Garg, G.2    Kuamar, A.3    Sundaramoorthy, E.4    Sanapala, K.R.5    Ghosh, S.6
  • 26
    • 67650753876 scopus 로고    scopus 로고
    • The treatment of hyperhomocysteinemia
    • Maron AB, Loscalzo J.2009). The treatment of hyperhomocysteinemia. Annu Rev Med 60, 39-54.
    • (2009) Annu. Rev. Med. , vol.60 , pp. 39-54
    • Maron, A.B.1    Loscalzo, J.2
  • 27
    • 33646119427 scopus 로고    scopus 로고
    • Maternal polymorphisms 677C-T and A1298C of MTHFR and 66A-G MTRR Genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk of having a child with Down Syndrome
    • Martinez-Frias ML, Perez B, Desviat LR, Castro M, Leal F, Rodriguez L et al.2006) Maternal polymorphisms 677C-T and A1298C of MTHFR, and 66A-G MTRR Genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk of having a child with Down Syndrome. Am J Med Genet 140A, 987-997.
    • (2006) Am. J. Med. Genet. , vol.A , pp. 987-997
    • Martinez-Frias, M.L.1    Perez, B.2    Desviat, L.R.3    Castro, M.4    Leal, F.5    Rodriguez, L.6
  • 28
    • 44449165550 scopus 로고    scopus 로고
    • The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk of infants with down syndrome
    • Martinez-frias ML (2008). The Biochemical Structure and Function of Methylenetetrahydrofolate Reductase Provide the Rationale to Interpret the Epidemiological Results on the Risk of Infants with Down Syndrome. Am J Med Genet 146A, 1477-1482.
    • (2008) Am. J. Med. Genet. , vol.A , pp. 1477-1482
    • Martinez-frias, M.L.1
  • 29
    • 48249083808 scopus 로고    scopus 로고
    • Review of the magnitude of folate and vitamin B12 deficiencies worldwide
    • McLean E, Benoist B, Allen LH (2008). Review of the magnitude of folate and vitamin B12 deficiencies worldwide. Food Nutr Bull 29 (Suppl), S38-S51.
    • (2008) Food Nutr. Bull. , vol.29
    • McLean, E.1    Benoist, B.2    Allen, L.H.3
  • 31
    • 33646449190 scopus 로고    scopus 로고
    • MTHFR C677T and A1298C are risk factors for Down's syndrome in Indian mothers
    • Rai AK, Singh S, Mehta S, Kumar A, Pandey LK, Raman R.2006). MTHFR C677T and A1298C 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.K.1    Singh, S.2    Mehta, S.3    Kumar, A.4    Pandey, L.K.5    Raman, R.6
  • 34
    • 33749685522 scopus 로고    scopus 로고
    • Vitamin B12, folic acid, and the nervous system
    • DOI 10.1016/S1474-4422(06)70598-1, PII S1474442206705981
    • Reynolds E.2006). Vitamin B12, folic acid, and the nervous system. Lancet Neurol 5, 949-960. (Pubitemid 44556551)
    • (2006) Lancet Neurology , vol.5 , Issue.11 , pp. 949-960
    • Reynolds, E.1
  • 35
    • 0036178211 scopus 로고    scopus 로고
    • The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans
    • DOI 10.1086/338932
    • Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E et al.2002). The Frequent 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphism is associated with a common haplotype in whites, Japanese and Africans. Am J Hum Genet 70, 758-762. (Pubitemid 34177929)
    • (2002) American Journal of Human Genetics , vol.70 , Issue.3 , pp. 758-762
    • Rosenberg, N.1    Murata, M.2    Ikeda, Y.3    Opare-Sem, O.4    Zivelin, A.5    Geffen, E.6    Seligsohn, U.7
  • 36
    • 0032771346 scopus 로고    scopus 로고
    • Homocysteine metabolism
    • DOI 10.1146/annurev.nutr.19.1.217
    • Selhub J.1999). Homocysteine Metabolism. Annu Rev Nutr 19, 217-246. (Pubitemid 29380603)
    • (1999) Annual Review of Nutrition , vol.19 , pp. 217-246
    • Selhub, J.1
  • 37
    • 48249126469 scopus 로고    scopus 로고
    • Public health significance of elevated homocysteine
    • Selhub J.2008). Public health significance of elevated homocysteine. Food Nutr Bull 29 (suppl), S116-S125.
    • (2008) Food Nutr. Bull. , vol.29
    • Selhub, J.1
  • 38
    • 16244371735 scopus 로고    scopus 로고
    • Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population
    • DOI 10.1111/j.1365-2605.2004.00513.x
    • Singh K, Singh S K, Sah R, Singh I, Raman R.2005). Mutation C677T in the Methylenetetrahydrofolate Reductase gene is associated with male infertility in an Indian Population. Int J Androl 28, 115-119. (Pubitemid 40461182)
    • (2005) International Journal of Andrology , vol.28 , Issue.2 , pp. 115-119
    • Singh, K.1    Singh, S.K.2    Sah, R.3    Singh, I.4    Raman, R.5
  • 40
    • 77951628918 scopus 로고    scopus 로고
    • Life style and genetic determinants of folate and vitamin B12 levels in a general adult population
    • Thuesen BH, Husemoen LLN, Oversen L, Jorgensen T, Fenger M, Linneberg A.2010). Life style and genetic determinants of folate and vitamin B12 levels in a general adult population. Br J Nutr 103, 1195-1204.
    • (2010) Br. J. Nutr. , vol.103 , pp. 1195-1204
    • Thuesen, B.H.1    Husemoen, L.L.N.2    Oversen, L.3    Jorgensen, T.4    Fenger, M.5    Linneberg, A.6
  • 41
    • 77953757618 scopus 로고    scopus 로고
    • Dietary intake of vitamins B6 B12 and folate in relation to homocysteine serum concentration in the adult Polish population-WOBASZ Project
    • Waskiewicz A, Sygnowska E, Broda G.2010). Dietary intake of vitamins B6, B12 and folate in relation to homocysteine serum concentration in the adult Polish population-WOBASZ Project. Kardiol Pol, 68, 275-282.
    • (2010) Kardiol. Pol. , vol.68 , pp. 275-282
    • Waskiewicz, A.1    Sygnowska, E.2    Broda, G.3
  • 44
    • 47249164811 scopus 로고    scopus 로고
    • Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: Findings from the third National Health and Nutrition Examination Survey DNA Bank
    • Yang QH, Botto LD, Gallagher M, Friedman JM, Sanders CL, Koontz D et al.2008). Prevalence and effects of gene-gene and gene-nutrient interactions on serum total homocysteine concentrations in the United States: Findings from the third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr 88, 232-246. (Pubitemid 351988705)
    • (2008) American Journal of Clinical Nutrition , vol.88 , Issue.1 , pp. 232-246
    • Yang, Q.-H.1    Botto, L.D.2    Gallagher, M.3    Friedman, J.M.4    Sanders, C.L.5    Koontz, D.6    Nikolova, S.7    Erickson, J.D.8    Steinberg, K.9
  • 45
    • 24744443273 scopus 로고    scopus 로고
    • G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism
    • DOI 10.1016/j.lfs.2005.02.029, PII S0024320505005333
    • Yates Z, Lucock M.2005). G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism. Life Sci 77, 2735-2742. (Pubitemid 41297860)
    • (2005) Life Sciences , vol.77 , Issue.22 , pp. 2735-2742
    • Yates, Z.1    Lucock, M.2
  • 46
    • 34248358966 scopus 로고    scopus 로고
    • Homocysteine 5 10-Methylenetetrahydrofolate Reductase C677T polymorphism nutrient Intake and incidence of cardiovascular disease in 24968 initially healthy woman
    • Zee RYL, Mora S, Cheng S, Erlich HA, Lindpaintner K, Rifai N et al.2007). Homocysteine, 5,10-Methylenetetrahydrofolate Reductase C677T polymorphism, nutrient Intake and incidence of cardiovascular disease in 24968 Initially Healthy Woman. Clin Chem 53, 845-851.
    • (2007) Clin. Chem. , vol.53 , pp. 845-851
    • Zee, R.Y.L.1    Mora, S.2    Cheng, S.3    Erlich, H.A.4    Lindpaintner, K.5    Rifai, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.