A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorFranco, R. F.
dc.creatorMorelli, V
dc.creatorLourenco, D.
dc.creatorMaffei, Francisco Humberto de Abreu
dc.creatorTavella, M. H.
dc.creatorPiccinato, C. E.
dc.creatorThomazini, I. A.
dc.creatorZago, M. A.
dc.date2014-05-20T15:23:35Z
dc.date2016-10-25T17:57:34Z
dc.date2014-05-20T15:23:35Z
dc.date2016-10-25T17:57:34Z
dc.date1999-05-01
dc.date.accessioned2017-04-05T23:42:52Z
dc.date.available2017-04-05T23:42:52Z
dc.identifierBritish Journal of Haematology. Oxford: Blackwell Science Ltd, v. 105, n. 2, p. 556-559, 1999.
dc.identifier0007-1048
dc.identifierhttp://hdl.handle.net/11449/34351
dc.identifierhttp://acervodigital.unesp.br/handle/11449/34351
dc.identifier10.1111/j.1365-2141.1999.01254.x
dc.identifierWOS:000080621300039
dc.identifierWOS000080621300039.pdf
dc.identifierhttp://dx.doi.org/10.1111/j.1365-2141.1999.01254.x
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/878294
dc.descriptionWe assessed the effect of a recently described mutation in the MTHFR gene (1298 A --> C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age-, race- and gender-matched controls. MTHFR 1298 A --> C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70-1.65) for heterozygotes and 0.83 (95% CI 0.33-2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22-9.48), for FII 20210 G --> A was 5.22 (95% CI 1.12-24.2) and for MTHFR 677 C --> T, 1.24 (95% CI 0.82-1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A --> C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FIT 20210 G --> A (OR 7.19, 95% CT 0.87-59.4) or MTHFR 677 C --> T (OR 1.44, 95% CT 0.71-2.92). These data do not support a critical role of MTHFR 1298 A --> C in the predisposition to DVT.
dc.languageeng
dc.publisherBlackwell Science
dc.relationBritish Journal of Haematology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMTHFR 1238 A -> C
dc.subjectMTHFR 677 C -> T
dc.subjectthrombosis
dc.subjectrisk factor
dc.subjectmutation
dc.titleA second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease
dc.typeOtro


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