The Mutation Ala677 → Val In The Methylene Tetrahydrofolate Reductase Gene: A Risk Factor For Arterial Disease And Venous Thrombosis

dc.creatorArruda V.R.
dc.creatorVon Zuben P.M.
dc.creatorChiaparini L.C.
dc.creatorAnnichino-Bizzacchi J.M.
dc.creatorCosta F.F.
dc.date1997
dc.date2015-06-30T14:48:40Z
dc.date2015-11-26T14:17:44Z
dc.date2015-06-30T14:48:40Z
dc.date2015-11-26T14:17:44Z
dc.date.accessioned2018-03-28T21:18:51Z
dc.date.available2018-03-28T21:18:51Z
dc.identifier
dc.identifierThrombosis And Haemostasis. , v. 77, n. 5, p. 818 - 821, 1997.
dc.identifier3406245
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0030610090&partnerID=40&md5=06627b90069e9e5bbd9a69ad1b0ac426
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/100115
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/100115
dc.identifier2-s2.0-0030610090
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1243419
dc.descriptionMild hyperhomocysteinemia has been identified as a risk factor for arterial disease and for venous thrombosis. Individuals homozygous for the thermolabile variant of the methylene tetrahydrofolate reductase gene (MTHFR) which results from a common mutation Ala677 → Val and is found in 5-15% of the general population, have significantly elevated plasma homocysteine levels and may account for one of the genetic risk factors in vascular disease. We have analyzed the prevalence of MTHFR-T homozygotes in patients with arterial disease or venous thrombosis. We studied 191 patients with arterial disease and 127 individuals with venous thrombosis and compared with 296 unmatched controls. The results showed that there was a high prevalence of homozygotes for the mutated MTHFR-T allele among a group of patients with arterial disease (19%) in the absence of hyperlipoproteinemia, hypertension, and diabetes mellitus when compared to controls (4%), odds ratio of 5.52 (95% C.I., 2.27 to 13.51). The prevalence of homozygotes among patients with venous thrombosis was 11%, odds ratio of 2.93 (95% C.I., 1.23 to 7.01). The risk of venous thrombosis remained high, odds ratio of 2.63, even after we excluded 27 patients with hereditary thrombophilia (e.g. factor V Leiden, dysfibrinogenemia, deficiency of protein C, protein S, antithrombin III, or factor XII) from the 127 overall cases with venous thrombosis. These data support the hypothesis that being a homozygote for the MTHFR-T is a risk factor for the development of arterial diasease and also for venous thrombosis.
dc.description77
dc.description5
dc.description818
dc.description821
dc.descriptionUeland, P.M., Refsum, H., Plasma homocysteine, a risk factor for vascular disease: Plasma levels in health, disease, and drug therapy (1989) J Lab Clin Med, 114, pp. 473-501
dc.descriptionKang, S.S., Wong, P.W.K., Malinow, M.R., Hyperhomocysteinemia as a risk factor for occlusive vascular disease (1992) Annu Rev Nutr, 12, pp. 279-298
dc.descriptionBrattström, L., Lindgren, A., Hyperhomocysteinemia as a risk factor for stroke (1992) Neurol Res, 14, pp. 81-84
dc.descriptionVerhoef, P., Hennekens, C.H., Malinow, R., Kok, F.J., Willet, W.C., Stampfer, M.J., A prospective study of plasma homocysteine and risk of ischemic stroke (1994) Stroke, 25, pp. 1924-1930
dc.descriptionBoers, G.H.J., Smals, A.G.H., Trijbels, F.J.M., Fowler, B., Bakkeren, J.A.J.M., Schoonderwaldt, H.C., Kleijer, W.J., Kloppenborg, P.W.C., Heterozygosity for homocystinuria in peripheral and cerebral occlusive arterial disease (1985) N Engl J Med, 313, pp. 709-715
dc.descriptionBoushey, C.J., Beresford, S.S.A., Omenn, G.S., Motulsky, A.G., A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: Probable benefits of increasing folic acid intakes (1995) JAMA, 274, pp. 1049-1057
dc.descriptionClarke, R., Daly, L., Robinson, K., Naughten, E., Cahalane, S., Fowler, B., Graham, I., Hyperhomocysteinemia: An independent risk factor for vascular disease (1991) N Engl J Med, 324, pp. 1149-1155
dc.descriptionFalcon, C.R., Cattaneo, M., Panzeri, D., Martinelli, I., Mannucci, P.M., High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis (1994) Arterioscler Thromb, 14, pp. 1080-1083
dc.descriptionDen Heijer, M., Blom, H.J., Gerrits, W.B.J., Rosendaal, F.R., Haak, H.L., Wijermans, P.W., Bos, G.M.J., Is hyperhomocysteinemia a risk factor for recurrent venous thrombosis? (1995) Lancet, 345, pp. 882-885
dc.descriptionDen Heijer, M., Koster, T., Blom, H.J., Bos, G.M.J., Briët, E., Reitsma, P.H., Vandenbroucke, J.P., Rosendaal, F.R., Hyperhomocysteinemia as a risk factor for deep-vein thrombosis (1996) N Engl J Med, 334, pp. 759-762
dc.descriptionUbbink, J.B., Vermaak, W.J.H., Van Der Merwe, A., Becker, P.J., Vitamin B 12, vitamin B 6, and folate nutritional status in men with hyperhomocysteinemia (1993) Am J Clin Nutr, 57, pp. 47-53
dc.descriptionStabler, S.P., Marcell, P.D., Podell, E.R., Allen, R.H., Savage, D.G., Lindenbaum, J., Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry (1988) J Clin Invest, 81, pp. 466-474
dc.descriptionKraus, J.P., Molecular basis of phenotype expression in homocystinuria (1994) J Inherit Metab Dis, 17, pp. 383-390
dc.descriptionDaly, L., Robinson, K., Tan, K.S., Graham, I., Hyperhomocysteinemia: A metabolic risk factor for coronary heart disease determined by both genetic and environmental influences? (1993) Q J Med, 86, pp. 685-689
dc.descriptionMudd, S.H., Havlik, Rb., Levy, H.L., McKusick, V.A., Feinleib, M., A study of cardiovascular risk in heterozygotes for homocystinuria (1981) Am J Hum Genet, 33, pp. 883-893
dc.descriptionEngbersen, A.M.T., Franken, D.G., Boers, G.H.J., Stevens, E.M.B., Trijbels, F.J.M., Blom, H.J., Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia (1995) Am J Hum Genet, 56, pp. 142-150
dc.descriptionGoyette, P., Frosst, P., Rosenblatt, D.S., Rozen, R., Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency (1995) Am J Hum Genet, 56, pp. 1052-1059
dc.descriptionKang, S.S., Wong, P.W.K., Susmano, A., Sora, J., Norusis, M., Ruggie, N., Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease (1991) Am J Hum Genet, 48, pp. 536-545
dc.descriptionKang, S.S., Wong, P.W.K., Zhou, J., Sora, J., Lessick, M., Ruggie, N., Grcevich, G., Thermolabile methylenetetrahydrofolate reductase in patients with coronay artery disease (1988) Metabolism, 37, pp. 611-613
dc.descriptionKang, S.S., Zhou, J., Wong, P.W.K., Kowalisyn, J., Strokosch, G., Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase (1988) Am J Hum Genet, 43, pp. 414-421
dc.descriptionFranken, D.G., Boers, G.H.J., Blom, H.J., Trijbels, J.M.F., Kloppernborg, P.W.C., Treatment of mild hyperhomocysteinemia in vascular disease patients (1994) Arterioscler Thromb, 14, pp. 465-470
dc.descriptionFroost, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.H.J., Rozen, R., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahidrofolate reductase (1995) Nature Genetics, 10, pp. 111-113
dc.descriptionKluijtmans, L.A.J., Van Den Heuvel, L.P.W.J., Boers, G.H.J., Frosst, P., Stevens, E.M.B., Van Oost, B.A., Den Heijer, M., Rozen, Rl., Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease (1996) Am J Human Genet, 58, pp. 35-41
dc.descriptionMotulsky, A.G., Nutritional ecogenetics: Homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid (1996) Am J Hum Genet, 58, pp. 17-20
dc.descriptionUbbink, J.B., Vermaak, W.J.H., Delport, R., Van Der Merwe, A., Becker, P.J., Potgieter, H., Effective homocysteine metabolism may protect South African blacks against coronary heart disease (1995) Am J Clin Nutr, 62, pp. 802-808
dc.descriptionStein, E.A., Lipids, Lipoproteins, and Apolipoprotrein (1987) Fundamentals of Clinical Chemistry, pp. 449-481. , Tieftz NW, editor. Philadelphia, PA: W. B. Saunders
dc.descriptionGuidelines on testing for the lupus anticoagulant (1991) J Clin Pathol, 44, pp. 885-889
dc.descriptionArruda, V.R., Annichino-Bizzacchi, J.M., Costa, F.F., Reitsma, F.F., Factor V Leiden (FVQ506) is common in Brazilian population (1995) Am J Hematol, 39, pp. 242-243
dc.descriptionWolf, M., Boyer-Neumann, C., Martinoli, J.-L., A new functional assay for human protein S activity using activated factor V as substrate (1989) Thromb Haemost, 62, pp. 1144-1145
dc.descriptionOdegaard, O.R., Try, K., Abilgaard, U., Protein C: A simplified semi-automated activity assay (1986) Thromb Res, 42, pp. 257-262
dc.descriptionAbildgaard, U., Lie, M., Oldergaard, O.R., Antithrombin (heparin cofactor) assay with new chromogenic substrates (1977) Thromb Res, 11, pp. 549-553
dc.descriptionBowie, E.J.W., Owen, J.C.A., Clinical and laboratory diagnosis of hemorrhagic disorders (1991) Disorders of Hemostasis, pp. 48-74. , Ratnoff OD, Forbes CD, editors. Philadelphia: W. B. Saunders Company
dc.descriptionMillar, S.A., Dykes, D.D., Polesky, H.F., A simple salting out procedure for extracting DNA from nucleated cell (1988) Nucleic Acids Res, 16, p. 1215
dc.descriptionSaiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.A., Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase (1988) Science, 239, pp. 487-491
dc.descriptionDean, A.G., Dean, J.A., Coulombier, D., Brendel, K.A., Smith, D.C., Burton, A.H., Dicker, R.C., Arner, T.G., (1994) Epi Info, Version 6: A Word Processing, Database, and Statistics Program for Epidemiology on Microcomputers, , Atlanta: Center for Disease Control and Prevention
dc.descriptionWilcken, D.E.L., Wang, X.L., Sim, A.S., McCredie, Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation (1996) Arterioscler Thromb Vase Biol, 16, pp. 878-882
dc.languageen
dc.publisher
dc.relationThrombosis and Haemostasis
dc.rightsfechado
dc.sourceScopus
dc.titleThe Mutation Ala677 → Val In The Methylene Tetrahydrofolate Reductase Gene: A Risk Factor For Arterial Disease And Venous Thrombosis
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución