scholarly journals Molecular Analysis of Factor V Leiden, Factor V Hong Kong, Factor II G20210A, Methylenetetrahydrofolate Reductase C677T, and A1298C Mutations Related to Turkish Thrombosis Patients

2007 ◽  
Vol 13 (4) ◽  
pp. 435-438 ◽  
Author(s):  
Bilgen Dölek ◽  
Serpil Eraslan ◽  
Sevim Eroğlu ◽  
Belgin Eroglu Kesim ◽  
Turgut Ulutin ◽  
...  
Keyword(s):  
Hong Kong ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Enzyme Analysis ◽  
Restriction Enzyme Analysis ◽  
Factor V ◽  
Conformation Analysis ◽  
Factor Ii ◽  
Fv Leiden

Inherited gene disorders related to the hemostatic system have been documented as risk factors for thrombosis. The roles of factor V Hong Kong (FV Hong Kong), factor V Leiden (FV Leiden), factor II G20210A (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C mutations in Turkish patients with thrombosis (270 patients) compared with healthy controls (114 subjects) were evaluated. Polymerase chain reaction—based restriction enzyme analysis was carried out to screen these mutations, and single-strand conformation analysis was established to identify variations using the primers selected for restriction enzyme analysis studies. As a result, a significant relationship was determined among FV Leiden, FII G20210A, and thrombosis. The FV Hong Kong mutation was observed in only 2 patients with pulmonary vein thrombosis who are FV Leiden/FV Hong Kong compound heterozygous for FV gene. MTHFR C677T and A1298C were equally distributed in the patient group compared with the control group. All named mutations were also identified with single-strand conformation analysis, but a new variant/polymorphism during studies was not found. Because some inherited abnormalities are associated with thromboembolic disorders, determining the mutations and gene-to-gene interactions in patients with thrombosis history has a great impact on diagnosis and treatment of these diseases.

Metabolic and Genetic Risk Factors for Migraine in Children

Cephalalgia ◽  
2006 ◽  
Vol 26 (6) ◽  
pp. 731-737 ◽  
Author(s):  
F Bottini ◽  
ME Celle ◽  
MG Calevo ◽  
S Amato ◽  
G Minniti ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Mutant Genotype ◽  
Methionine Load ◽  
Increased Risk ◽  
Factor Ii ◽  
Stroke In The Young

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied. Homocysteine levels (fasting and post methionine load), vitamin B12 and plasma folate levels, factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations were examined. Compared with controls, patients with migraine had higher levels of post-methionine load homocysteine values (19.5 ± 4.9 vs. 16.9 ± 1.9; P = 0.025) and significantly lower folate levels (5.8 ± 2.6 vs. 7.5 ± 2.1; P = 0.002). We found a trend toward an increased risk of migraine in subjects carrying a homozygous mutant genotype for MTHFR C677T and MTHFR A1298C polymorphisms. Genetic prothrombotic conditions do not seem to be related to migraine in the young, whereas the biochemical differences between migrainous patients and controls are an appealing topic for further investigation.

scholarly journals A Case of Budd-Chiari Syndrome Associated with Erythrocytosis and Homozygous MTHFR C677T Mutation

2021 ◽  
pp. 24-30
Author(s):  
Leilane Bentes De Sousa ◽  
Dayane Ferreira Aguiar ◽  
José Pereira de Moura Neto
Keyword(s):  
Case Report ◽  
Randomized Clinical Trials ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Hepatic Veins ◽  
Factor V ◽  
Budd Chiari Syndrome ◽  
Venous Flow ◽  
Chiari Syndrome

An erythrocytosis describes an increased erythrocyte, subclassified into relative due to hemoconcentration or absolute by an increase in erythrocyte mass, defined as an increase in hemoglobin concentration and/or hematocrit in the peripheral blood above the sex-specific normal range. Budd-Chiari Syndrome (BCS) is related to an obstruction of the hepatic venous flow leading to occlusion of hepatic veins and their tributaries. Genetic and environmental factors can interact for risk determination of venous thromboembolism. The risk associated with SNP 677C>T and 1298A>C of the methylenetetrahydrofolate reductase (MTHFR), 1691G>A of the Factor V Leiden (FVL) and 20210G>A of the prothrombin (FII) genes were investigated in many studies involving thrombosis. This case report describes the clinical, hematological and biochemistry data about a 48-year-old woman diagnosed with PV and a BCS associated, also carrying 677C>T SNP in homozygosity. The patient started therapy with phlebotomy, hydroxyurea and oral anticoagulant. Currently, she presents a better clinical and laboratory condition with normalized values of hematological and platelet indices. This case report aims to contribute with evidence of related comorbidities and makes it possible to report that genetic factors are involved since the patient's mother had already been diagnosed with absolute erythrocytosis in 2016 at 78 years old. For this main result, we understand that it is clear that a family genetic study can reveal clinical modifying factors in these patients, as there are different clinical severities in the family. Furthermore, we believe in the need for a greater number of randomized clinical trials to add better evidence to complement an ideal therapeutic approach in these patients.

Factor V Leiden (G1691A), the Prothrombin 3’-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetrahydrofolate Reductase (C677T): A Single Genetic Test Genotypes all Three Loci – Determination of Frequencies in the S. Wales Population of the UK

1998 ◽  
Vol 79 (05) ◽  
pp. 949-954 ◽  
Author(s):  
D. J. Bowen ◽  
S. Bowley ◽  
M. John ◽  
P. W. Collins
Keyword(s):  
Confidence Interval ◽  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Genetic Diagnosis ◽  
Factor V Leiden ◽  
Heteroduplex Analysis ◽  
Factor V ◽  
Nucleotide Substitutions ◽  
Single Polymerase Chain Reaction ◽  
Fv Leiden

SummarySimultaneous genetic diagnosis of factor V (FV) Leiden (G1691A), the prothrombin variant (G20210A) and the thermolabile methylenetetrahydrofolate reductase (MTHFR) variant (C677T) has been achieved using multiplex heteroduplex analysis. All three loci are amplified in a single polymerase chain reaction (PCR) containing test DNA and three heteroduplex generators, respectively detecting the three nucleotide substitutions. After PCR, the products are analysed directly without further manipulation and the resulting heteroduplex profiles permit straightforward interpretation of the respective genotypes. The multiplex test has been used to assess the prevalence and allele frequency of each of the three nucleotide substitutions in 300 individuals (150 males and 150 females) from the local (S. Wales) population. A prevalence of 8% and an allele frequency of 0.040 ± 0.015 (95% confidence interval) was obtained for FV Leiden; the prothrombin variant showed a prevalence of 1% and an allele frequency of 0.007 ± 0.006 (95% confidence interval); the MTHFR mutation showed a prevalence of 60% and an allele frequency of 0.377 ± 0.039 (95% confidence interval). This method is applicable to investigation of large cohorts of patients with arterial or venous thrombotic disease.

Association of factor V gene polymorphisms (Leiden; Cambridge; Hong Kong and HR2 haplotype) with recurrent idiopathic pregnancy loss in Tunisia

2006 ◽  
Vol 95 (04) ◽  
pp. 612-617 ◽  
Author(s):  
Walid Zammiti ◽  
Nabil Mtiraoui ◽  
Eric Mercier ◽  
Nesrine Abboud ◽  
Sarra Saidi ◽  
...  
Keyword(s):  
Hong Kong ◽  
Pregnancy Loss ◽  
Fetal Loss ◽  
Factor V Leiden ◽  
Factor V ◽  
Inherited Thrombophilia ◽  
Factor V Gene ◽  
Fv Leiden ◽  
Clinical Risks ◽  
Control Study

SummaryInherited thrombophilia has been shown to be linked with fetal loss. We performed a case-control study on the association between thrombosis-related polymorphisms in the factor V (FV) gene (Leiden, Cambridge, Hong Kong; HR2 haplotype) and idiopathic recurrent pregnancy loss (RPL) in Tunisian women. A total of 348 women with RPL, and 203 control women were studied, corresponding to 1,250 pregnancy losses and 1,200 successful pregnancies. FV Leiden was seen in 19.4% of patients (4.3% in the homozygous state) and in 5.5% of controls. The prevalence of the FV HR2 haplotype was similar in patients and controls, but with 7 homozygous patients for 1 control. FV Cambridge and Hong Kong were absent from both patients and controls. The study of all pregnancy losses evidenced that the frequency of the factor V Leiden polymorphism was zero in women who had miscarried before7 weeks of gestation, and then sharply increased to a plateau. After categorization of pregnancy losses (before8 weeks of gestation; weeks 8 and 9; weeks 10 to 12; from the 13th week of gestation onwards), heterozygous and homozygous factor V Leiden polymorphisms, and homozygous FV HR2 haplotype, were associated with significant and independent risks of pregnancy loss during weeks 8 and 9, which increased during weeks 10 to 12, then culminated after week 12. In Tunisian women with idiopathic RPL, factor V Leiden polymorphism and homozygous FV HR2 haplotype are not a risk factor for very early pregnancy loss, before 8 weeks of gestation, but are thereafter associated with significant clinical risks, which gradually increase from the 8th week onwards.

scholarly journals Evaluation of Electronic Microarrays for Genotyping Factor V, Factor II, and MTHFR

2003 ◽  
Vol 49 (5) ◽  
pp. 732-739 ◽  
Author(s):  
Maria Erali ◽  
Ben Schmidt ◽  
Elaine Lyon ◽  
Carl Wittwer
Keyword(s):  
Molecular Biology ◽  
Mutation Detection ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Wild Type ◽  
Sequence Variations ◽  
Factor Ii ◽  
Additional Sequence ◽  
Detection Of Mutations

Abstract Background: Genetic risk factors associated with venous thrombosis include mutations in the factor V (Leiden), factor II (prothrombin), and methylenetetrahydrofolate reductase (MTHFR) genes. We evaluated a method using electronically addressable microarrays for the detection of mutations in these genes that have been associated with vascular disease. Methods: The NanoChip® Molecular Biology Workstation (Nanogen) uses electronic microarrays for mutation detection. Factor V, factor II, and MTHFR genotypes identified in the NanoChip system on 225 samples were compared with genotypes from LightCycler® assays (Roche). We determined within- and between-cartridge signal and ratio variation and analyzed the effect of additional mutations at or near the detection area used for the NanoChip assays. Results: Genotypes determined for all three mutations on the NanoChip platform were in complete concordance with LightCycler results. Within-cartridge signal variation as measured by the CV of fluorescence signals was <10% for each allele when present. The within-cartridge CV for heterozygous mutant/wild-type ratios was <8.5%, and between-cartridge CV was <18%. A dilution study showed that results could be obtained in this assay with 6 ng of nucleic acid per PCR, the lowest input tested. The presence of additional sequence variations near the expected mutations can produce equivocal or discrepant results. Conclusions: Mutation detection using the NanoChip Molecular Biology Workstation was accurate and reproducible for the three assays evaluated.

Coexistence of Factor V Leiden and Factor II A20210 Mutations and Recurrent Venous Thromboembolism

1999 ◽  
Vol 82 (12) ◽  
pp. 1583-1587 ◽  
Author(s):  
Giovanna D’Andrea ◽  
Donatella Colaizzo ◽  
Giuseppe Cappucci ◽  
Annamaria del Popolo ◽  
Vincenzo Brancaccio ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Antiphospholipid Antibodies ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor Ii ◽  
Recurrent Venous Thromboembolism ◽  
Fv Leiden ◽  
Gene Defects ◽  
Work Up

SummaryPatients carrying the FV Leiden or the FII A20210 mutation have a high risk of venous thromboembolism. Among 542 patients with a documented diagnosis of deep venous thrombosis in one leg consecutively referred for a thrombophilic work-up, we have retrospectively assessed the rate of objectively documented previous recurrence in carriers of both FV Leiden and FII A20210 mutations. Eighty-two patients had experienced 115 episodes of recurrent venous thromboembolism. The rate of recurrent venous thromboembolism was 29.2% among subjects with and 14.5% in those without deficiencies of natural anticoagulant proteins (p = 0.055), and 24.6% among patients with and 14.0% in those without antiphospholipid antibodies (p = 0.036). The frequency of having a recurrent thromboembolism was 16.2%, 20.0%, and 36.4% among carriers of FV Leiden, FII A20210 mutation, or both gene defects, respectively, and 12.8% in subjects carrying neither mutation (p for trend = 0.004). When adjusted for age, sex, and thrombophilic risk factors, the rate was higher among patients with than in those without deficiencies of natural anticoagulant proteins (OR: 3.0; 95% CI: 1.2-7.5), aPL 2.5 (95% CI: 1.3-4.9), or both FV Leiden and FII A20210 gene mutations (OR 4.8; 95% CI: 1.9-12.2).The rate of previous recurrent venous thromboembolism was significantly higher in subjects carrying both FV Leiden and FII 20210 mutations and was comparable to that observed in subjects with deficiencies of natural anticoagulant proteins or antiphospholipid antibodies.

scholarly journals Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

2010 ◽  
Vol 17 (6) ◽  
pp. E87-E94 ◽  
Author(s):  
Elif Kupeli ◽  
Hasibe Verdi ◽  
Abdullah Simsek ◽  
Fatma Belgin Atac ◽  
Fusun Oner Eyuboglu
Keyword(s):  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Health Hazard ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Turkish Population ◽  
Factor V ◽  
G20210a Mutation ◽  
Significant Difference ◽  
Pai 1

Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients ( P = .04) with allele frequency of 6.3% ( P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients ( P = .001) with allele frequency of 6.9% ( P = .003). MTHFR 677TT genotype was significantly higher in patients ( P = .009) with allele frequency of 23.8% ( P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies ( P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

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.

scholarly journals Association of Factor II G20210A, Factor V G1691A and methylenetetrahydrofolate reductase C677T gene polymorphism with different forms of myocardial infarction: ST segment elevation and non-ST segment elevation

2020 ◽  
Vol 77 (10) ◽  
pp. 1041-1047
Author(s):  
Milica Cucuz-Jokic ◽  
Vesna Ilic ◽  
Bojana Cikota-Aleksic ◽  
Slobodan Obradovic ◽  
Zvonko Magic
Keyword(s):  
Myocardial Infarction ◽  
Coronary Artery ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Factor V ◽  
St Segment Elevation ◽  
St Segment ◽  
Factor Ii ◽  
Factor V G1691a ◽  
St Elevation

Background/Aim. Coagulation Factor II G20210A and Factor V G1691A variants are moderately associated with coronary artery disease. Polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T is associated with myocardial infarction (MI) in some ethnical groups. At the present time there are rare studies which try to differentiate two forms of MI, ST-elevation MI (STEMI) and non ST-elevation MI (NSTEMI) according to the genetic background. The aim of the study was investigate the association of polymorphisms of Factor II G20210A, Factor V G1691A and MTHFR C677T with different forms of MI: STEMI and NSTEMI. Methods. The study included 82 patients, divided into two cohorts: patients with STEMI (49 patients) and NSTEMI (33 patients). Genetic factors that would be different in those two entities, included in response to plaque rupture and occlusion of coronary artery, were examined. The peripheral blood lymphocytes were used as DNA source. Genotypes were determined on the polymerase chain reaction (PCR) based methodology. Results. The frequency of MTHFR C677T CT genotype was higher in the patients with NSTEMI in comparison with the patients with STEMI [odds ratio (OR) 3.33; 95% confidence interval (CI) 1.22?9.15; p = 0.02]. Logistic regression analysis shows MTHFR CT genotype as an independent prognostic factor for development of NSTEMI (OR 3.15; 95% CI 1.20?8.29; p = 0.02). There were no differences between two patients groups in frequency of Factor II G20210A and Factor V G1691A gene polymorphism. Conclusion. MTHFR C677T CT genotype was significantly associated with the NSTEMI development examined patients.

Sign in / Sign up

Export Citation Format

Share Document