C677T MTHFR Mutation and Factor V Leiden Mutation in Patients with TIA/Minor Stroke

Lalouschek, Wolfgang; Aull, S.; Serles, Wolfgang; Schnider, Peter; Mannhalter, Christine; Pabinger‐Fasching, Ingrid; Deecke, Lüder; Zeiler, K

doi:10.1016/s0049-3848(98)00154-6

Cited by 51 publications

(26 citation statements)

References 33 publications

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“…In accordance with previous findings, our study indicates that the MTHFR C677T mutation is frequent in healthy individuals and that there is no association between this mutation and stroke (46,47). Several studies reported that the MTHFR C677T mutation is not a risk factor for ischemic stroke (44,46,48). Conversely, this mutation is associated with stroke in Asian populations (45,49).…”

Section: Discussionsupporting

confidence: 91%

“…MTHFR mutations cause a slightly higher risk of arterial thrombotic events than of venous thromboembolism (41,45). In accordance with previous findings, our study indicates that the MTHFR C677T mutation is frequent in healthy individuals and that there is no association between this mutation and stroke (46,47). Several studies reported that the MTHFR C677T mutation is not a risk factor for ischemic stroke (44,46,48).…”

Section: Discussionsupporting

confidence: 90%

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Prevalence Of Thrombophilic Mutations In Ischemic Stroke Patients In Isparta, Turkey

Erten¹,

Demirci²,

Sütçü³

2015

tnd

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Objective: The present study aimed to investigate whether the frequency of factor V, methylenetetrahydrofolate reductase (MTHFR), prothrombin, β-fibrinogen gene mutations, and human platelet alloantigens (HPA), plasminogen activator inhibitor 1 (PAI1), apolipoprotein E (APOE), and angiotensin converting enzyme (ACE) gene polymorphisms in stroke patients is higher than that in normal individuals. Materials and Methods:Two hundred twelve patients with cerebral infarction and 238 individuals of similar age and gender with no history of stroke were included. Demographics and risk factors for cerebrovascular disease of all individuals were determined. Biochemical parameters were analyzed in serum, and electrocardiography was performed. Factor V, MTHFR, prothrombin, β-fibrinogen mutations and HPA, PAI, APOE, and ACE polymorphisms were investigated. Data were analyzed with SPSS 15.0 software using descriptive statistics, chi-square, independent two-group t-test, and logistic regression tests. Statistically significant differences in independent variables were further analyzed by logistic regression.Results: HPA, PAI, APO, and ACE polymorphism frequency was not significantly different between the stroke and control groups. Factor V H1299R, factor V Leiden, and β fibrinogen -455GA mutation frequencies were significantly higher in the stroke than the control group in the chi-square test, but not in logistic regression analysis. Amaç: Dünyanın farklı bölgelerinde kalıtsal trombofilik risk faktörlerinin görülme sıklığı değişiklik göstermektedir. Bu çalışma ile bölgemizde iskemik inme geçirmiş hastalarda faktör V, metilentetrahidrofolat redüktaz (MTHFR), protrombin, β-Fibrinojen gen mutasyonları ve human platelet alloantigens (HPA), plazminojen aktivatör inhibitör 1 (PAİ), Apolipoprotein E (APO-E), Anjiyotensin dönüştürücü enzim (ADE) gen polimorfizmlerinin görülme sıklıklarının kontrol grubuna göre anlamlı olup olmadığının araştırılması amaçlanmıştır. Conclusion Gereç ve Yöntem:Çalışmamıza kliniğimizde takip edilen serebral enfarkt geçirmiş 212 hasta ve inme geçirmemiş yaş ve cinsiyet özellikleri hasta grubuna benzer 238 birey alındı. Tüm katılımcıların demografik verileri ve beyin damar hastalıkları için risk faktörleri sorgulandı. Serumlarında bazı biyokimyasal parametrelere bakıldı ve elektrokardiyografileri çektirildi. Faktör V, MTHFR, protrombin, β-Fibrinojen gen mutasyonları ve HPA, PAİ, APO-E, ADE gen polimorfizmlerine bakıldı. İnme ve kontrol grubunda karşılaştırılan bağımsız değişkenlerden istatistiksel olarak anlamlı bulunanlar lojistik regresyon analizine alındı.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

Prevalence Of Thrombophilic Mutations In Ischemic Stroke Patients In Isparta, Turkey

Erten¹,

Demirci²,

Sütçü³

2015

tnd

View full text Add to dashboard Cite

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“…This mutation has been shown to be the most prevalent hereditary cause of venous thrombosis [28]. However, the roles described for MTHFR in arterial vascular disease and particularly cerebrovascular disease are contradictory [2,16,17,21,[29][30][31][32][33]. Lopaciuk et al [17] from Poland reported that homozygosity for C677T mutation in the MTHFR gene is not associated with an increased risk for ischemic stroke.…”

Section: Discussionmentioning

confidence: 99%

MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

et al. 2004

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The MTHFR C677T mutation has been shown to be associated with venous thrombosis. The role of this mutation in ischemic stroke is unclear. We investigated whether the MTHFR mutation is a risk factor for patients with ischemic stroke in the Black Sea Turkish population or not. We analyzed 30 patients (19 male, 11 female) [median age: 50 years (range: 28-78)] with ischemic stroke who had no known predisposition factors for stroke and 242 (182 male, 60 female) healthy controls [median age: 42 years (range: 18-65)]. Detection of the MTHFR C677T mutation was performed by using commercially available allele-specific PCR-ELISA kits. Prevalence of the MTHFR C677T genotype was 49.1% (CT, 45.8%; TT, 3.3%) in controls and 50% (CT, 43.3%; TT, 6.6%) in patients [OR: 1.03, 95% CI (0.45-2.35]). The prevalence of homozygous gene mutation for MTHFR was higher among patients with stroke than control subjects, but this difference was not statistically significant. The MTHFR gene mutation is not a risk factor for ischemic stroke formation in patients from the Black

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“…The MTHFR C677T polymorphism has a high prevalence in the general population, with the frequency of heterozygotes in patients with thrombotic disease ranging between 33.6 and 51.9% in different ethnic groups (Markus et al, 1997;Morita et al, 1998;Harmon et al, 1999;Lalouschek et al, 1999;Fujimura et al, 2000;Hanson et al, 2001;Lopaciuk et al, 2001;Wu et al, 2001;Zhang and Dai, 2001;Li et al, 2002;Marcucci et al, 2003;He et al, 2010;Alves Jacob et al, 2011). In Brazilian populations of the states of Goiás and Rio de Janeiro, this frequency has been reported around 34% (Rocha, 2009;Alves Jacob et al, 2011), while in US patients of mixed ancestry with DVT (Hanson et al, 2001), a frequency of 46% was closer to and homogeneous with that found in our study.…”

Section: Discussionmentioning

confidence: 99%

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

et al. 2017

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ABSTRACT. High plasma homocysteine (Hcy) levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-b-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy. Except for the CBS G919A polymorphism, all other genetic markers were in HardyWeinberg equilibrium. An increased risk for venous thrombosis was found for the MTHFR 1298CC carriers (OR = 1.688; 95%CI = 0.839-3.398, P = 0.018) and those homozygously mutant for the CBS haplotype 844ins68/T833C (OR = 2.488; 95%CI = 0.501-12.363, P = 0.031), while heterozygous for this CBS haplotype showed an increased risk for higher Hcy levels (OR = 5.900; 95%CI = 1.003-34.691, P = 0.030). Significant interactions were observed among the MTHFR C677T, MTHFR A1298C and CBS haplotype 844ins68/T833C polymorphisms in the results for Hcy levels (P = 0.000), where heterozygous had higher values. Interactions among these polymorphisms can affect serum Hcy levels, where multiple heterozygosis could be a risk factor for vasoocclusive episodes.

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C677T MTHFR Mutation and Factor V Leiden Mutation in Patients with TIA/Minor Stroke

Cited by 51 publications

References 33 publications

Prevalence Of Thrombophilic Mutations In Ischemic Stroke Patients In Isparta, Turkey

Prevalence Of Thrombophilic Mutations In Ischemic Stroke Patients In Isparta, Turkey

MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

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