Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C

Sazcı, Ali; Ergül, Emel; Tuncer, Neşe; Akpınar, Gürler; Kara, İhsan

doi:10.1016/j.brainresbull.2006.07.014

Cited by 91 publications

(64 citation statements)

References 45 publications

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“…atrial fibrillation). In studies assessing the role of hereditary thrombophilia in the etiology of cerebral arterial and cerebral venous thrombosis (CAT, CVT), the risk for stroke was found to increase in the presence of different thrombophilic factors [9][10][11][12][13][14][15][16]. Hypercoagulable states are responsible for 5-10% of all IS cases, and hereditary thrombophilia is especially more common in the etiology of IS in the younger subgroup of patients [17].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Yokuş¹,

Balçık²,

Albayrak³

et al. 2010

Turk J Hematol

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Objective: The increased risk for thrombosis is known as hypercoagulability or thrombophilia. In our study, we aimed to determine the frequency of the identified defects for thrombophilia in patients with central venous thrombosis aged under 50 years and to compare results with the findings in the current literature. Materials and Methods: Forty-three patients (16-50 years old) were retrospectively evaluated. Thrombophilia investigation included determinations of protein C, protein S, antithrombin, and activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylene tetrahydrofolate reductase (MTHFR) C677T mutations, antiphospholipid antibodies (APA), factor VIII levels, and homocysteine levels. Results: We detected a single thrombophilic defect in 67.4%, two defects in 27.9% and three defects in 4.7% of our patients. The most common thrombophilic defect was mutation in the MTHFR gene (41.8%), and this was followed by the FVL mutation (34.9%). Conclusion: Since the prevalence of individual thrombophilic defects varies in each population, ethnic group and geographical location, screening for thrombophilic defects in patients presenting with cerebral venous thrombosis should primarily investigate the most frequent thrombophilia risk factors. (Turk J Hematol 2010; 27: 162-7) Key words: Cerebral venous thrombosis, thrombophilia, thrombophilic defects Received: October 4, 2009 Accepted: March 22, 2010 Özet Amaç: Tromboz riskinin artması hiperkoagulabilite ya da trombofili olarak bilinmektedir. Çalışmamızda, serebral venöz tromboz gelişen ve trombofilik defekt saptanan 50 yaş ve altı hastalarımızda tespit edilen trombofilik defektleri, sıklığını değerlendirmek ve literatür bilgileriyle karşılaştırmak amaçlanmıştır.

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Section: Introductionmentioning

confidence: 99%

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Yokuş¹,

Balçık²,

Albayrak³

et al. 2010

Turk J Hematol

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“…We identified 15 published articles (Zhao et al, 2001;Li et al, 2003;Fang et al, 2004;Hu et al, 2004;Ye et al, 2004;Zhang et al, 2004a;Zhang et al, 2004b;Cai et al, 2005;Dikmen et al, 2006;Sazci et al, 2006;Xiao et al, 2006;Zhang et al, 2008;Ruigrok et al, 2010;Hultdin et al, 2011;Somarajan et al, 2011) that were eligible for this meta-analysis on the relation of the C677T polymorphism in the MTHFR gene to hemorrhagic stroke. All 15 eligible studies were case-control designs.…”

Section: Study Characteristicsmentioning

confidence: 99%

Association of the C677T Polymorphism in the MTHFR Gene with Hemorrhagic Stroke: A Meta-Analysis

Kang

Zhao

Liu

et al. 2013

Genetic Testing and Molecular Biomarkers

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Aims: We performed a meta-analysis to assess the possible association between the MTHFR gene C677T polymorphism and hemorrhagic stroke. Methods: A comprehensive search was conducted to identify all case-control or cohort design studies of the associations between C677T and HS. The fixed or random effect pooled measure was selected on the basis of a homogeneity test among studies. Heterogeneity among studies was evaluated using the I 2 . Meta-regression and the ''leave-one-out'' sensitive analysis of Patsopoulos et al. were used to explore potential sources of between-study heterogeneity. Publication bias was estimated using the Begg's test. Results: Fifteen case-control studies corresponded to the inclusion criteria, including 2034 cases and 4485 controls for the present meta-analysis. After excluding articles that deviated from the Hardy-Weinberg equilibrium in controls and the key contributors to between-study heterogeneity, significant associations between the MTHFR C677T genetic polymorphism and the risk of hemorrhagic stroke were observed in dominant (Odds ratio [OR] 1.611, 95% confidence interval [CI] 1.336-1.942), codominant (OR 1.500, 95% CI 1.330-1.692), and recessive (OR 1.695, 95% CI 1.409-2.038) models. Conclusions: The meta-analysis suggests that the MTHFR C667T genetic polymorphism was associated with increased risk of hemorrhagic stroke, and the T allele may be an important risk factor for hemorrhagic stroke. The findings are of importance to the genetic epidemiology of hemorrhagic stroke, and to explore genetic diagnosis, treatment, and prevention of hemorrhagic stroke.

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“…There are two common polymorphisms in the MTHFR gene (namely, C677T and A1298C) that decrease the activity of the enzyme product and are involved in the pathogenesis of many inherited as well as acquired conditions. Initially, the role of MTHFR in human disease was confi ned largely to cardiovascular risks, as reduction in the enzyme activity results in hyperhomocysteinemia, which is well-established risk factor for thrombosis and cardiovascular disease (46,71). Later, the association of polymorphic MTHFR alleles with modulation of the risk of various solid tumors (colorectal, breast, etc.)…”

Section: Good Markers For Bad Conditions -Choosing the Tools To Fi Ghmentioning

confidence: 99%

Genetic Bases for Predisposition to Common Multifactorial Disease in Man. Part I.

Petkova

Chakarov

Ganev

2007

Biotechnology & Biotechnological Equipment

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Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C

Cited by 91 publications

References 45 publications

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Association of the C677T Polymorphism in the MTHFR Gene with Hemorrhagic Stroke: A Meta-Analysis

Genetic Bases for Predisposition to Common Multifactorial Disease in Man. Part I.

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