MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults

2021 ◽  
Author(s):  
Lamia M’barek ◽  
Salma Sakka ◽  
Fatma Meghdiche ◽  
Dhaker Turki ◽  
Khadija Maalla ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Arterial Ischemic Stroke ◽  
G20210a Mutation ◽  
Fv Leiden

The Frequency of Factor V Leiden and Concomitance of Factor V Leiden With Prothrombin G20210A Mutation and Methylene Tetrahydrofolate Reductase C677T Gene Mutation in Healthy Population of Denizli, Aegean Region of Turkey

2007 ◽  
Vol 13 (2) ◽  
pp. 166-171 ◽  
Author(s):  
Sibel Kabukcu ◽  
Nazan Keskin ◽  
Ali Keskin ◽  
Erol Atalay
Keyword(s):  
Gene Mutation ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Healthy Population ◽  
Factor V ◽  
Aegean Region ◽  
Apc Resistance ◽  
G20210a Mutation ◽  
Fv Leiden

Factor V Leiden causing activated protein C resistance is the most common inherited form of thrombophilia leading to thrombosis. Its frequency shows great ethnic and geographic variations. The aim of this study was to determine the frequency of FV Leiden and coinheritance of FV Leiden with two other frequent hereditary thrombophilia causes, namely, prothrombin G20210A and methylene-tetrahydrofolate reductase ( MTHFR) C677T mutation in the Aegean region of Turkey. The study population consisted of 1030 (500 men and 530 women) apparently healthy subjects. Functional resistance to activated protein C (APC) was measured by using the test kit STA staclot APC-R ((Diagnostica Stago, Asnieres, France, Cat. No. 00721). In subjects with APC resistance, molecular analyses of FV Leiden and of prothrombin G20210A and MTHFR C677T mutation were performed by using FV-PTH-MTHFR StripA (Vienna Lab, Labordiagnostika GmbH, Austria) kit, which was based on hybridization of polymerase chain reaction (PCR) amplified DNA products with mutation-specific oligonucleotide probes. Functional APC resistance was present in 93 subjects (9%). FV Leiden mutation was found in 87 of 93 subjects with APC resistance by PCR method. The FV Leiden carrier frequency was found to be 8.4% (87/1030). Seventy-six individuals were heterozygous (7.3%), and 11 were homozygous (1.06%). Among the 87 subjects with FV Leiden mutation, 45 subjects had MTHFR C677T gene mutation (7 homozygous, 38 heterozygous) and 4 subjects had heterozygote prothrombin G20210A gene mutation. A combination of FV Leiden and prothrombin G20210A and MTHFR C677T gene mutation was detected in 3 subjects. The results indicate that FV Leiden prevalence is quite high and coexistence of FV Leiden with other hereditary causes of thrombosis such as prothrombin G20210A mutation and MTHFR enzyme defect is not rare in healthy population of Aegean region of Turkey.

The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

2021 ◽  
Vol 16 ◽  
Author(s):  
Ozlem Oz ◽  
Ataman Gonel
Keyword(s):  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Cross Sectional ◽  
Factor V Leiden Mutation ◽  
Erythrocyte Morphology ◽  
Mthfr A1298c ◽  
G20210a Mutation ◽  
History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

scholarly journals Common Variations in Prothrombotic Genes and Susceptibility to Ischemic Stroke in Young Patients: A Case-Control Study in Southeast Iran

Medicina ◽  
2019 ◽  
Vol 55 (2) ◽  
pp. 47
Author(s):  
Seyed Hashemi ◽  
Nourollah Ramroodi ◽  
Hamed Amiri Fard ◽  
Sahar Talebian ◽  
Maryam Haghighi Rohani ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Case Control Study ◽  
Young Patients ◽  
Mthfr C677t ◽  
Case Control ◽  
Prothrombin G20210a ◽  
Increased Risk ◽  
Objective Evidence ◽  
Control Study ◽  
Stroke In Young

Background and Objective: Evidence indicates that genetic factors may be involved in the risk of ischemic stroke (IS). The aim of this study was to assess the effect of genetic polymorphisms located in exons or untranslated regions of MTHFR as well as FV genes on ischemic stroke. Materials and Methods: In this case-control study, 106 patients with IS and 157 healthy volunteers (age <50 years) were genotyped for MTHFR C677T, A1298C, C2572A and C4869G, FVL, and prothrombin G20210A polymorphisms. Results: The MTHFR 677CT genotype was more frequent in patients and increased risk of IS with Odds Ratio = 1.9. The MTHFR A1298C and C2572A polymorphisms were not associated with IS in dominant and recessive models. Our findings showed a significant decrease in the MTHFR 4869CG genotype in IS patients, and this variant was associated with a decreased risk of IS in the dominant model. The CAAT haplotype was associated with increased risk, and the GAAC haplotype was associated with decreased risk of IS compared to other haplotypes. There was no relation between FVL G1691A polymorphism and IS risk. Conclusions: The present study showed that the MTHFR 677CT genotype was more frequent and the MTHFR 4869CG genotype was less frequent in young IS patients.

Role of Factor V R2 Haplotype and Common Thrombophilia Markers as Genetic Risk Factors for Ischemic Stroke

2020 ◽  
Vol 3 (2) ◽  
pp. 144-150
Author(s):  
Manuela De Michele ◽  
Svetlana Lorenzano ◽  
Noemi Angelosanto ◽  
Alessandra Serrao ◽  
Luca Petraglia ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Thrombotic Event ◽  
Multivariate Logistic Regression Analysis ◽  
Protein S ◽  
Mthfr C677t ◽  
Sample Population ◽  
Factor V ◽  
Fv Leiden ◽  
Italian Sample

Background: Uncertainties remain about the role of common thrombophilia markers as determinants of the ischemic stroke (IS) risk. Polymorphism His1299Arg in the FV gene, named R2 haplotype (FVHR2), has been poorly investigated. The aim of the present study was to assess the prevalence of common thrombophilia markers and of FVHR2 in a cohort of IS patients compared to a nonmatched group of healthy individuals. Methods: We studied 156 consecutive patients survivors of a first ever IS and 124 healthy controls. All subjects were investigated for the gene polymorphisms factor V (FV) Leiden, prothrombin (PTH) G20210A, MTHFR C677T, and FVHR2. Protein C (PC), protein S (PS), antithrombin (ATIII), and lupus anticoagulant (LAC) activity was measured. Homocysteinemia was assessed within 48 hours and after 30 days from stroke onset. Univariate and multivariate analyses were performed. Results: Compared with controls, patients were significantly older (mean [SD] age, 50.5 [12.9] vs 37.5 [15.5] years, P < .001), less frequently females (48.1% vs 67.7%, P = .001) and had more frequently hyperhomocysteinemia (45.9% vs 11.0%) only in the acute phase (OR 6.899, CI 95% 2.993-15.899; P < .001). No differences were found in the prevalence of FV Leiden, PTH G20210A, and MTHFR C677T between patients and controls, whereas FVHR2 was present in 34/156 (22%) stroke patients and in 5/124 (4%) controls (OR 6.632, 95% CI 2.509-17.535, P < .001). In a multivariate logistic regression analysis, the FVHR2 resulted independently associated with the occurrence of IS (OR 6.071, 95% CI 1.762-20.923; P = .004). Conclusions: In our study, hyperhomocysteinemia was confirmed to be a transient consequence of the thrombotic event. FVHR2 seems to be a possible candidate prothrombotic condition related to arterial IS irrespective of age and sex in an Italian sample population.

Association of Polymorphisms in Coagulation Factor Genes and Enzymes of Homocysteine Metabolism With Arterial Ischemic Stroke in Children

2016 ◽  
Vol 23 (8) ◽  
pp. 1042-1051 ◽  
Author(s):  
Désirée Coen Herak ◽  
Jasna Lenicek Krleza ◽  
Margareta Radic Antolic ◽  
Ivana Horvat ◽  
Vlasta Djuranovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Human Platelet ◽  
Mthfr C677t ◽  
Factor V ◽  
Intermediate Risk ◽  
Arterial Ischemic Stroke ◽  
Mthfr A1298c ◽  
C677t Mthfr ◽  
Increased Risk ◽  
Fv Leiden

Despite the identification of a wide range of inherited and acquired risk factors for arterial ischemic stroke (AIS) in children, genetic risk factors are incompletely characterized and may vary among different populations. We investigated the role of individual and combined inherited prothrombotic and intermediate-risk factors in 73 children with perinatal (n = 35) and childhood AIS (n = 38) and 100 age- and sex-matched controls. Ten polymorphisms in 8 candidate genes encoding coagulation and fibrinolytic proteins (factor V [FV] Leiden, FV HR2, factor II [FII] G20210A, β-fibrinogen [β-FBG]-455G>A, factor XIII [FXIII]-A p.Val34Leu, plasminogen activator inhibitor 1 4G/5G), homocysteine metabolism (methylenetetrahydrofolate reductase [MTHFR] C677T, MTHFR A1298C), and intermediate-risk factors (angiotensin-converting enzyme I/D, apoE ∊2-4) were detected using a multilocus genotyping assay. Allele-specific polymerase chain reaction was used for the determination of human platelet alloantigens (HPA-1, HPA-2, HPA-3, and HPA-5). Factor V Leiden was associated with an increased risk of AIS (odds ratio [OR]: 4.72, 95% confidence interval [CI]: 1.22-18.27) and perinatal AIS (OR: 8.29, 95% CI: 1.95-35.24). Human platelet antigen-3b allele carriers had a 2-fold lower risk of AIS (OR: 0.51, 95% CI: 0.26-0.98) and perinatal AIS (OR: 0.40, 95% CI: 0.18-0.92). A 2.21-fold increased risk of childhood AIS (95% CI: 1.03-4.73) was identified in FXIII-A Leu34 allele carriers. Combined FV Leiden/FV HR2, FV Leiden/MTHFR A1298C, FV Leiden/MTHFR C677T/MTHFR A1298C, and FV Leiden/FV HR2/MTHFR A1298C heterozygosity was identified in children with AIS but not in controls, which revealed a statistically significant difference. This case–control study shows that besides already documented association between FV Leiden and AIS, other previously unreported polymorphisms (FXIII-A p.Val34Leu, HPA-3) and several genotype combinations that always include heterozygous FV Leiden can be related to AIS in Croatian population.

scholarly journals Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients

Blood ◽  
1998 ◽  
Vol 91 (10) ◽  
pp. 3562-3565 ◽  
Author(s):  
Valerio De Stefano ◽  
Patrizia Chiusolo ◽  
Katia Paciaroni ◽  
Ida Casorelli ◽  
Elena Rossi ◽  
...  
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Methylenetetrahydrofolate Reductase ◽  
Young Patients ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Mutant Genotype ◽  
G20210a Mutation ◽  
Increased Risk ◽  
Factor Ii

Abstract The factor II G20210A mutation is a recently identified congenital risk factor for venous thrombosis. Its role in artery disease is still undefined. We investigated 72 patients (35 male and 37 female) with documented ischemic stroke occurred before 50 years of age and without risk factors such as diabetes, hypertension, and hyperlipidemia; 198 thrombosis-free individuals were investigated as the control group. We found 7 heterozygotes (9.7%) and 2 homozygotes (2.7%) for the mutant factor II allele among the patients and 5 heterozygotes (2.5%) among the controls; the mutant factor II allele frequency in the patient group (7.6%, 95% confidence interval [CI], 3.3 to 11.9) was significantly higher than in the controls (1.2%; 95% CI, 0.1 to 2.3;P = .0001). The prevalence of other investigated mutant alleles (factor V G1691A, methylenetetrahydrofolate reductase C677T) did not significantly differ between the two groups. The odds ratio for ischemic stroke associated with the carriership of the mutant factor II allele (both heterozygous and homozygous genotypes) was 5.1 (95% CI, 1.6 to 16.3). Heterozygous genotype was associated with a 3.8-fold increased risk for cerebral ischemia (95% CI, 1.1 to 13.1); in particular, assuming an expected prevalence of homozygotes in the general population of 1.6 to 10,000 according to the Hardy-Weinberg equilibrium, the risk associated with the homozygous genotype was estimated exceedingly high, being increased 208-fold.

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