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, Wassim Y.; Tamim, Hani; Kreidy, Raghid; Timson, Georgina; Rahal, Elias A.; Nabulsi, Malak; Finan, Ramzi R.; Irani-Hakime, Noha

doi:10.1007/s11239-005-1313-x

Cited by 51 publications

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“…The concomitant presence of factor V Leiden and the MTHFR C677T polymorphism further increases the risk of VTE comparatively to the singular action of factor V Leiden, showing the importance of multiple risk factors for VTE (12,33).…”

Section: Discussionmentioning

confidence: 99%

“…The role of MTHFR polymorphisms in VTE is controversial: some authors have shown an association between the MTHFR C677T polymorphism and VTE (10)(11)(12)(13)(14), whereas others have proven the contrary (15)(16)(17). Considering the insufficient evidence, the professional guidelines do not recommend testing for MTHFR polymorphisms when evaluating the aetiology of VTE (College of American Pathologists, American College of Medical Genetics, The British Committee for Standards in Haematology and the British Society for Haematology); however, hyperhomocysteinemia should be measured in those found to be positive for factor V Leiden (18)(19)(20).…”

Section: Introductionmentioning

confidence: 99%

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The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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IntroductionVenous thromboembolism (VTE) is a multifactorial disease, usually the result of the interaction between a genetic background predisposing to hypercoagulability and acquired risk factors. Although considered idiopathic in 25-50% of cases, investigations may detect a cause in over 80% of the patients with VTE (1). Previous studies have shown that an underlying thrombophilia could be found in about half of patients with a first episode of idiopathic VTE (1, 2). Among the "traditional" thrombophilia factors (such as protein C, protein S or antithrombin III deficiency, Factor V Leiden or Prothrombin G20210A mutations), methylenetetrahydrofolate reductase (MTHFR) polymorphisms associated with hyperhomocysteinemia have recently raised interest. The MTHFR gene encodes the enzyme MTHFR, which regulates the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the substrate for remethylation of homocysteine to methionine. The MTHFR gene is located on the short (p) arm of chromosome 1 at position 36.3. There are two common polymorphisms of the MTHFR gene: the MTHFR 677 CT polymorphism resulting in the substitution of alanine to valine at codon 222 (AlaVal) and the MTHFR 1298 AC polymorphism, resulting in a glutamine to alanine substitution (GluAla). The MTHFR C677T polymorphism, especially in the homozygous state, leads to decreased enzyme activity and hyperhomocysteinemia, whereas the MTHFR A1298C polymorphism presents a less well-defined effect, with a lesser decrease of the enzyme function.The prevalence of the T allele varies among races and ethnic groups: it is more common in Caucasians and Asians (30%) compared to African Americans (11%) (3, 4). In Europe, the lowest frequency is found in Finland (25.1%) and the Netherlands (27.4%) and the highest in Italy (45%; 47.3% in Sicily), France (34%-36%), Hungary (33.7%) and Spain (33%) (5-7). The incidence of the MTHFR C677T polymorphism in the general population is about 45% and 15% for heterozygous and homozygous genotypes, respectively. The prevalence of homozygotes for the MTHFR 677TT polymorphism in Europe varies between 5 and 15%; the heterozygous MTHFR C677T genotype presents the highest prevalence in Italy (44%) and the lowest in Norway (28%) (3,4,8,9).The role of MTHFR polymorphisms in VTE is controversial: some authors have shown an association between the MTHFR C677T polymorphism and VTE (10-14), whereas others have proven the contrary (15)(16)(17)

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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“…Hyperhomocysteinaemia is implicated in premature vascular disease, venous thrombosis and unexplained early pregnancy loss. 12 Hyperhomocysteine is an independent risk factor for atherosclerosis, stroke, peripheral vascular disease and cardiovascular disease. Nutrition affects the concentrations too, for example low B-6 and B-12 vitamin intake causes elevation of homocysteine levels.…”

Section: Introductionmentioning

confidence: 99%

“…Hyperhomocysteinemia promotes vascular damage that can be found in PE. 12 The prevalence of homozygosity for the MTHFR C677T polymorphism is reported to be 9-10% in Caucasian Europeans. [13][14][15] We determined the MTHFR polymorphism in healthy and in well-defined groups of severe preeclamptic and HELLP syndrome patients in a Caucasian, Hungarian population.…”

Section: Introductionmentioning

confidence: 99%

High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR

2006

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Our aim was to determine the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in hypertensive disorders during pregnancy. We conducted our experiments on isolated DNA samples of 73 healthy pregnant, 101 severe pre-eclamptic and 63 HELLP syndrome women in this study. The MTHFR C677T polymorphism was determined by quantitative real-time PCR method. A significantly higher number of the TT genotype (25.4%) was found in the HELLP syndrome group compared to the healthy (8.2%) and severe preeclamptics group (8.9%) (P ¼ 0.03). The frequency of the mutant T allele was found to be 45.2% of HELLP syndrome, whereas it was 32.2% of the healthy pregnant (P ¼ 0.03) and 30.2% (P ¼ 0.008) of the severe preeclamptic patients. In the HELLP group a high frequency of eclampsia was observed (12.6%) and among them 75% had the MTHFR C677T mutation.

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“…This mutation was seen in 5% -15% of different races [13] [15] [16]. Salomon et al studied patients with idiopathic venous thromboembolism (VTE) and reported that the rate of MTHFR-C677T mutation was higher in VTE patients compared to healthy subjects (22.8% vs. 14.3%) [17].…”

Section: Mthfr Mutationmentioning

confidence: 99%

Common Prothrombotic Gene Mutations in Cerebral Venous Sinus Thrombosis in North-West of Iran

Sadeghi-Hokmabadi¹,

Sakhinia²,

Farhoudi³

et al. 2017

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Objective: Cerebral venous sinus thrombosis (CVST) is a life-threatening cerebrovascular disease which has high prevalence and mortality rate in Iran. Thrombophilia caused by gene mutation is a common cause of CVST. The present study aimed at assessing the prevalence of thrombophilic gene mutations in Iranian CVST patients and then comparing it with normal population. Materials and methods: In a case-control study, polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) and amplification-refractory mutation system (ARMS-PCR) were carried out to detect common thrombophilic mutations in 70 CVST patients. Next, it was compared with 82 sex-and age-matched healthy controls. Results: Factor

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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

Abstract: This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT.

Cited by 51 publications

References 40 publications

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR

Common Prothrombotic Gene Mutations in Cerebral Venous Sinus Thrombosis in North-West of Iran

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