Methylenetetrahydrofolate reductase (MTHFR) gene c.655C&gt;T and c.1286A&gt;C and SERPINE 1 -675 4G/5G polymorphisms in Polish patients with venous thromboembolism and cryptogenic ischemic stroke

Klajmon, Adrianna; Cichoń, Mariusz; Natorska, Joanna; Undas, Anetta; Wypasek, Ewa

doi:10.20452/pamw.16218

Cited by 2 publications

(2 citation statements)

References 13 publications

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“…On the other hand, previously published data of similar studies which found that heterozygote genotype for MTHFR C677T was present in (40.0%) while homozygote genotype were present in (7.5%) of studied VTE patients (14)(15)(16) . We found that genotyping frequency of MTHFR C677T polymorphism had no statistically significant difference between VTE subgroups (Chi-Square test (X2) equals 1.156 and P-value equals 0.561), this finding was in agreement with others (17)(18)(19) We found that sixty percent of patients in our study had lower-extremity DVT, whereas twenty-five percent had pulmonary thromboembolism, and fifteen percent had both. Similarly, (26) found that approximately 2/3 of VTE is clinically manifested as DVT, and 1/3 manifests as isolated PE or PE coexisting with DVT.…”

Section: Discussionsupporting

confidence: 91%

Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

Idris,

Elwia,

Marei

et al. 2024

Benha Medical Journal

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Background: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs because of genetic and environmental risk factors. Aim of the study: To evaluate the genetic markers Factor V Leiden (G1691A), Prothrombin gene (PT G20210) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms in high-risk patients with venous thromboembolism in Benha University Hospital. Patients and Methods: The study consisted of 20 patients of both sexes divided into three groups lower limb DVT group, isolated PE group and DVT complicated by PE group. A venous blood sample collected from patients was used to detect Factor V Leiden (G1691A), Prothrombin gene (G20210A) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms by real time polymerase chain reaction (PCR) genotyping. Results: We found that the highest genotyping frequency was FVL G1691A polymorphism found in 8 patients (72.7.0%) of included patients with thrombophilic gene polymorphisms, the lowest frequency was F2 G20210A polymorphism found in 2 patients (18.0%) and 5 patients (45%) had MTHFRC677T polymorphism of included patients with thrombophilic gene polymorphisms. FVL G1691A had the highest percentage of 3 patients (25.0%) in lower limb DVT group then MTHFRC677T 2 patients (16.7%) and the lowest percentage was prothrombin G20210A one patient (8.3%). FVL G1691A and MTHFRC677T had an equal percentage in pulmonary thromboembolism group, 2 patients (40.0%) having each polymorphism which is higher than prothrombin G20210A (0.0%) that wasn't detected in this group. FVL G1691A had the highest percentage, 3 patients (100.0) in DVT and pulmonary embolism group while prothrombin G20210A and MTHFRC677T had an equal percentage, one patient (33.3%) having each polymorphism. The genotyping frequency of these polymorphisms had no statistically significant difference between VTE subgroups. Conclusion: The present study performed a review of genetic variants associated with venous thromboembolism for understanding the underlying etiology and our results give a strategy of diagnostic evaluations for the individuals at high risk of venous thromboembolism.

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Section: Discussionsupporting

confidence: 91%

Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

Idris,

Elwia,

Marei

et al. 2024

Benha Medical Journal

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“…An unprovoked episode of venous thromboembolism (VTE) was defined as previously described [13]. The diagnosis of deep vein thrombosis (DVT) was established on the basis of a positive finding on color duplex sonography [11].…”

Section: Methodsmentioning

confidence: 99%

A series of Polish patients with congenital fibrinogen disorders: 2 new mutations in fibrinogen gamma chain, Fibrinogen Kostrzyn and Fibrinogen Łódź II

Weronska¹,

Klukowska²,

Neerman-Arbez³

et al. 2022

Polish Archives of Internal Medicine

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Methylenetetrahydrofolate reductase (MTHFR) gene c.655C>T and c.1286A>C and SERPINE 1 -675 4G/5G polymorphisms in Polish patients with venous thromboembolism and cryptogenic ischemic stroke

Abstract: Methylenetetrahydrofolate reductase (MTHFR) gene c.655C>T and c.1286A>C and SERPINE 1 -675 4G/5G polymorphisms in Polish patients with venous thromboembolism and cryptogenic ischemic stroke

Cited by 2 publications

References 13 publications

Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

A series of Polish patients with congenital fibrinogen disorders: 2 new mutations in fibrinogen gamma chain, Fibrinogen Kostrzyn and Fibrinogen Łódź II

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