The Methylenetetrahydrofolate Reductase TT677 Genotype Is Associated with Venous Thrombosis Independently of the Coexistence of the FV Leiden and the Prothrombin

Margaglione, Maurizio; D’Andrea, Giovanna; d’Addedda, Marina; Giuliani, Nicola; Cappucci, Giuseppe; Iannaccone, Luigi; Vecchione, Gennaro; Grandone, E.; Brancaccio, Vincenzo; Minno, Giovanni Di

doi:10.1055/s-0037-1615091

Cited by 131 publications

(79 citation statements)

References 29 publications

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“…Patients carrying FV Leiden individually (OR, 10.418), and in combination with PRT G20210A (OR, 85.198), or homozygous MTHFR C677T (OR, 81.133), had a very high estimated odds, while the calculated odds in carriers of the PRT G20210A and homozygous MTHFR C677T (OR, 20.812), was notably lower. This was in agreement with previous reports documenting the synergistic interaction between FV-Leiden and other prothrombotic SNPs [35], and enhanced risk of VTE in FV-Leiden when associated with PRT G2010A [36,37], or homozygous MTHFR C677T [20].…”

Section: Discussionsupporting

confidence: 93%

A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

Almawi

Tamim

Kreidy

et al. 2005

J Thromb Thrombolysis

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Section: Discussionsupporting

confidence: 93%

A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

Almawi

Tamim

Kreidy

et al. 2005

J Thromb Thrombolysis

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“…The C677T and A1298A variants show reduced in vitro MTHFR enzyme activity (Frosst et al, 1995;van der Put et al, 1998). C677T/C677T homozygotes can display moderate hyperhomocysteinemia, which constitutes an independent risk factor for thrombophilia (Frosst et al, 1995;Arruda et al, 1997;Margaglione et al, 1998). A1298C/A1298C homozygotes, as well as carriers of either variant, do not suffer this risk, because their plasma homocysteine levels are within the normal range, but C677T/A1298C compound heterozygotes have increased homocysteine and reduced folate levels, similar to C677T/ C677T homozygotes (van der Put et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

High Incidence of Two Methylenetetrahydrofolate Reductase Mutations (C677T and A1298C) in Hispanics

Chowdary¹,

Streck²,

Schwalb³

et al. 2003

Genetic Testing

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Mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) and coagulation factors II and V genes have been found at high frequencies in European and American Caucasian populations and are associated with increased risk for thrombophilia, premature coronary artery disease, and a variety of adverse pregnancy outcomes. Hispanic populations in the United States exhibit high levels of some of these conditions, so we initiated a population-based study to determine the frequency of these mutations (MTHFR C677T and A1298C, Factor II G20210A and Factor V G1691A) in this group. We find comparable frequencies of the Factors II and V mutations, but a high incidence of the two MTHFR mutations in a diverse sample of American Hispanics compared to those reported in Caucasians. Prospective studies of Hispanic women with these mutations and pregnancy outcomes will establish if there is a causal relationship. 255

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“…In three studies, C677T was shown to be a risk factor for venous thrombosis (132,136,137). The other studies failed to demonstrate an increased prevalence of C677T MTHFR among patients compared with controls.…”

Section: Case-control Studies Of Genetic Abnormalities Of Hcy Metabolismmentioning

confidence: 98%

Hyperhomocysteinemia and thrombosis

Cattaneo

2001

Lipids

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Homocysteine (Hcy) is a sulfhydryl amino acid derived from the metabolic conversion of methionine, which is dependent on vitamins (folic acid, B12, and B6) as cofactors or cosubstrates. In 1969, McCully first reported the presence of severe atherosclerotic lesions in patients with severe hyperhomocysteinemia and hypothesized the existence of a pathogenic link between hyperhomocysteinemia and atherogenesis. Several case-control and cross-sectional studies were consistent with the initial hypothesis of McCully, showing that moderate hyperhomocysteinemia is also associated with heightened risk of occlusive arterial disease. Less consistent results have been reported by prospective cohort studies of subjects who were healthy at the time of their enrollment, whereas prospective cohort studies of patients with overt coronary artery disease or other conditions at risk consistently confirmed the association between moderate hyperhomocysteinemia and cardiovascular morbidity and mortality. More recently, an association between moderate hyperhomocysteinemia and heightened risk of venous thromboembolism has been documented, suggesting that hyperhomocysteinemia might be involved not only in atherogenesis, but also in thrombogenesis. The mechanisms by which hyperhomocysteinemia might contribute to atherogenesis and thrombogenesis are incompletely understood. The mainstay of treatment of hyperhomocysteinemia is folic acid, alone or in combination with vitamin B12 and vitamin B6. Although it is quite clear that vitamins effectively reduce the plasma levels of total homocysteine (tHcy), we do not yet know whether they will decrease the risk of vascular disease. The results of ongoing randomized, placebo-controlled, double-blind trials of the effects of vitamins on the thrombotic risk will help in defining whether the relationship between hyperhomocysteinemia and thrombosis is causal, and will potentially have a dramatic effect in the prevention of thromboembolic events.

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The Methylenetetrahydrofolate Reductase TT677 Genotype Is Associated with Venous Thrombosis Independently of the Coexistence of the FV Leiden and the Prothrombin

Cited by 131 publications

References 29 publications

A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

High Incidence of Two Methylenetetrahydrofolate Reductase Mutations (C677T and A1298C) in Hispanics

Hyperhomocysteinemia and thrombosis

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