Thermolabile Methylenetetrahydrofolate Reductase and Factor V Leiden in the Risk of Deep-Vein Thrombosis

Kluijtmans, Leo A. J.; Heijer, Martin den; Reitsma, Pieter H.; Heil, Sandra G.; Blom, Henk J.; Rosendaal, Frits R.

doi:10.1055/s-0037-1614974

Cited by 152 publications

(98 citation statements)

References 23 publications

(42 reference statements)

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“…Currently, it is generally accepted that the MTHFR C677T polymorphism alone is not a risk factor for thrombosis [30]. In the homozygous state, however, this variant can be considered a risk factor when associated with other thrombophilic conditions [31].…”

Section: Discussionmentioning

confidence: 99%

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

et al. 2006

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The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we conducted a case-control study involving 100 consecutive patients with deep vein thrombosis and 114 healthy controls from the Hospital Universitario San Vicente de Paú l, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR 5 6.08, 95% CI 5 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR 5 12.56, 95% CI 5 1.61-267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombin G20210A mutation was found in 4/100 patients, but none of the controls (P < 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia. Am. J. Hematol. 81:933-937, 2006. V V C 2006 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

et al. 2006

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“…Folate metabolism and homocysteine levels are connected with several clinical disorders, including coronary artery disease, deep venous thrombosis, neural tube defects, and cancer (see Gailey and Gregory 15 for review); the thermolabile variant has been associated in different studies with increased risk of each of these diseases. 13,14,16 -20 However, despite the biologic plausibility of these associations, none have been reproducibly observed across many studies (for example, Ma et al [21][22][23] ).…”

Section: Review Of the Association Study Literaturementioning

confidence: 99%

A comprehensive review of genetic association studies

Hirschhorn

Lohmueller

Byrne

et al. 2002

Genetics in Medicine

1,465

994

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Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease. This proposal has begun to be tested in numerous studies of association between genetic variation at these common DNA polymorphisms and variation in disease susceptibility. We have performed an extensive review of such association studies. We find that over 600 positive associations between common gene variants and disease have been reported; these associations, if correct, would have tremendous importance for the prevention, prediction, and treatment of most common diseases.However, most reported associations are not robust: of the 166 putative associations which have been studied three or more times, only 6 have been consistently replicated. Interestingly, of the remaining 160 associations, well over half were observed again one or more times. We discuss the possible reasons for this irreproducibility and suggest guidelines for performing and interpreting genetic association studies. In particular, we emphasize the need for caution in drawing conclusions from a single report of an association between a genetic variant and disease susceptibility. Genet Med 2002:4(2):45-61.

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“…The mechanism whereby homocysteine increases the incidence of vascular events, including deep vein thrombosis, is thought to be related to endothelial damage, although more work needs to be done in this area. 32 …”

Section: Hyperhomocysteinemiamentioning

confidence: 99%

Laboratory Markers in the Diagnosis of Venous Thromboembolism

et al. 2004

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Abstract-Selected blood tests may be useful in the diagnosis of venous thromboembolism (VTE), or in the identification of a congenital or acquired defect associated with the development of VTE. Several studies have shown the D-dimer assay to have a high negative predictive value but poor specificity when used in the detection of VTE. Yet in the emergency room setting, the D-dimer test may be useful if a detailed risk factor analysis for each patient is included in the diagnosis. The presence of such genetic thrombophilia markers as factor V Leiden, prothrombin 20210A mutation, and antiphospholipid antibodies significantly increases a patient's risk of a thrombotic event. The relative risk of thrombosis in factor V heterozygotes is at least 3 times higher than in the general population, whereas the increased risk of thrombosis in homozygotes is estimated to be 50-to 80-fold greater than those without the defect. Thromboembolic events are reported in approximately one third of antiphospholipid-positive patients. Other markers such as hyperhomocysteinemia and deficiencies of antithrombin, protein C, or protein S, when combined with the previous mutations, significantly increase a patient's risk of a thrombotic event. We feel that it is important to identify these ultra-high-risk patients to provide adequate counseling about the risk of thrombosis before elective surgical procedures. Often, lifelong anticoagulation may be needed as these patients and family members may need testing before taking birth control pills or hormonal replacement.

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Thermolabile Methylenetetrahydrofolate Reductase and Factor V Leiden in the Risk of Deep-Vein Thrombosis

Cited by 152 publications

References 23 publications

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

A comprehensive review of genetic association studies

Laboratory Markers in the Diagnosis of Venous Thromboembolism

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