Prothrombin 20210A Mutation

Bank, Ivan; Libourel, Eduard J.; Middeldorp, Saskia; Pampus, E.C.M. van; Koopman, M. M. W.; Hamulyák, Karly; Prins, Martin H.; Meer, Jan van der; Büller, Harry R.

doi:10.1001/archinte.164.17.1932

Cited by 98 publications

(12 citation statements)

References 34 publications

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“…2,5,[13][14][15] In brief, individual-level data from 4 large retrospective family cohort studies with various thrombophilic index defects were pooled. The major difference between these cohorts was the index defect of the proband.…”

Section: Methods Participantsmentioning

confidence: 99%

“…5 In the other 3 cohorts, probands had to have either VTE or premature ATE (any ATE before the age of 50 years) in the presence of prothrombin G20210A polymorphism, elevated factor VIII (>150 IU) levels, or hyperhomocysteinemia. 2,[13][14][15] To avoid selection bias, probands of the later 3 cohorts were dropped from the analysis because these were also selected on the basis of ATE. Moreover, the cohort with the index defect of the anticoagulant protein deficiency was a single-center study conducted at the University Medical Center (UMC) Groningen, whereas the other 3 studies were conducted at UMC Maastricht, Amsterdam Medical Center, and UMC Groningen.…”

Section: Methods Participantsmentioning

confidence: 99%

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Interaction of Hereditary Thrombophilia and Traditional Cardiovascular Risk Factors on the Risk of Arterial Thromboembolism

Mahmoodi

Veeger

Lijfering

et al. 2016

Circ Cardiovasc Genet

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Endothelial damage and subsequent atherosclerosis are considered the main etiologic factors for ATE, whereas coagulation disturbance and stasis of the blood are major risk factors for VTE. 6 This is also consistent with the much higher relative risk of VTE as compared with ATE in individuals with hereditary thrombophilia. [2][3][4][5] Although the process of atherosclerosis is driven by traditional cardiovascular risk factors, such as hypertension, diabetes mellitus, smoking, hyperlipidemia, and obesity, the occurrence of ATE (ie, transient ischemic attack, ischemic stroke, or myocardial infarction) is typically caused by rupture of atherosclerotic plugs with subsequent thrombus formation.6 Therefore, synergistic interaction of hereditary Background-Hereditary thrombophilia is associated with a slightly increased risk of arterial thromboembolism (ATE).Whether hereditary thrombophilia interacts with traditional cardiovascular risk factors on the risk of ATE has yet to be established. Methods and Results-A total of 1891 individuals belonging to 4 family cohorts from the Netherlands were included in the analyses. Five hereditary thrombophilic defects, including factor V Leiden, prothrombin G20210A defect, and deficiencies of the natural anticoagulants (ie, antithrombin, protein C, and protein S), were assessed, and data on risk factors and previous ATE were collected. Thrombophilia was associated with elevated risk of ATE (hazard ratio =1.74, 95% confidence interval, 1.18-2.58; P=0.005). Overall, the association of thrombophilia with ATE tended to be stronger in the presence of traditional cardiovascular risk factors, especially the synergistic effect of thrombophilia with diabetes mellitus was striking (hazard ratio of thrombophilia-ATE association was 1.41 in nondiabetics versus 8.11 in diabetics). Moreover, the association of thrombophilia with ATE tended to be stronger in females and before the age of 55 years as compared with males and individuals >55 years of age, respectively. Conclusions-Thrombophilia is associated with ATE. This association may be stronger in the presence of traditional cardiovascular risk factors in particular in individuals with diabetes mellitus. Future studies on thrombophilia-ATE risk should focus on high-risk populations with high prevalence of traditional cardiovascular risk factors. (Circ Cardiovasc Genet. 2016;9:79-85.

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Section: Methods Participantsmentioning

confidence: 99%

Section: Methods Participantsmentioning

confidence: 99%

Interaction of Hereditary Thrombophilia and Traditional Cardiovascular Risk Factors on the Risk of Arterial Thromboembolism

Mahmoodi

Veeger

Lijfering

et al. 2016

Circ Cardiovasc Genet

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“…Similarly, a familial cohort study found that the prothrombin 20210 mutation was a mild risk factor for venous thromboembolism but was not found to increase the risk of arterial thromboembolic events. 828 …”

Section: Less Well-documented or Potentially Modifiable Risk Factorsmentioning

confidence: 99%

Guidelines for the Primary Prevention of Stroke

Meschia¹,

Bushnell²,

Boden‐Albala³

et al. 2014

Stroke

1,657

586

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The aim of this updated statement is to provide comprehensive and timely evidence-based recommendations on the prevention of stroke among individuals who have not previously experienced a stroke or transient ischemic attack. Evidence-based recommendations are included for the control of risk factors, interventional approaches to atherosclerotic disease of the cervicocephalic circulation, and antithrombotic treatments for preventing thrombotic and thromboembolic stroke. Further recommendations are provided for genetic and pharmacogenetic testing and for the prevention of stroke in a variety of other specific circumstances, including sickle cell disease and patent foramen ovale.

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“…2 The prothrombin G20210A mutation plays a role in hypercoagulability and has been associated with a two-to-fourfold higher risk for venous thrombosis. 3,4 Although this polymorphism has been well characterized for venous thrombosis, its role in arterial vascular disease still remains uncertain, particularly in young-adults with ischemic stroke. To address this issue, we examined the association between the prothrombin G20210A mutation and first-ever ischemic stroke in young Caucasian adults from the Genetics of Early Onset Stroke (GEOS) study.…”

Section: Introductionmentioning

confidence: 99%

Prothrombin G20210A Mutation Is Associated With Young-Onset Stroke

Jiang

Ryan

Hamedani

et al. 2014

Stroke

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Background and Purpose Although the prothrombin G20210A mutation has been implicated as a risk factor for venous thrombosis, its role in arterial ischemic stroke is unclear, particularly among young-adults. To address this issue, we examined the association between prothrombin G20210A and ischemic stroke in a Caucasian case-control population and additionally performed a meta-analysis Methods From the population-based Genetics of Early Onset Stroke (GEOS) study we identified 397 individuals of European ancestry aged 15-49 years with first-ever ischemic stroke and 426 matched-controls. Logistic regression was used to calculate odds ratios in the entire population and for subgroups stratified by gender, age, oral contraceptive use, migraine and smoking status. A meta-analysis of 17 case-control studies (n=2305 cases <55 years) was also performed with and without GEOS data. Results Within GEOS, the association of the prothrombin G20210A mutation with ischemic stroke did not achieve statistical significance (OR=2.5,95%CI=0.9-6.5,p=0.07). However, among adults aged 15-42 (younger than median age), cases were significantly more likely than controls to have the mutation (OR=5.9,95%CI=1.2-28.1,p=0.03), whereas adults ages 42-49 were not (OR=1.4,95%CI=0.4-5.1,p=0.94). In our meta-analysis, the mutation was associated with significantly increased stroke risk in adults <=55 years (OR=1.4;95%CI=1.1-1.9;p=0.02) with significance increasing with addition of the GEOS results (OR=1.5;95%CI=1.1-2.0;p=0.005). Conclusions The prothrombin G20210A mutation is associated with ischemic stroke in young-adults and may have an even stronger association among those with earlier onset strokes. Our finding of a stronger association in the younger-young adult population requires replication.

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Prothrombin 20210A Mutation

Abstract: The prothrombin mutation is a mild risk factor for VTE within families of carriers but does not seem to play an important role in arterial thrombotic disease, with the exception of myocardial infarction, or in pregnancy-related complications.

Cited by 98 publications

References 34 publications

Interaction of Hereditary Thrombophilia and Traditional Cardiovascular Risk Factors on the Risk of Arterial Thromboembolism

Interaction of Hereditary Thrombophilia and Traditional Cardiovascular Risk Factors on the Risk of Arterial Thromboembolism

Guidelines for the Primary Prevention of Stroke

Prothrombin G20210A Mutation Is Associated With Young-Onset Stroke

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