scholarly journals Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium

2005 ◽  
Vol 62 (3) ◽  
pp. 201-205 ◽  
Author(s):  
Valentina Djordjevic ◽  
Ljiljana Rakicevic ◽  
Milos Spasic ◽  
Predrag Miljic ◽  
Danijela Mikovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
First Episode ◽  
Factor V ◽  
G20210a Mutation ◽  
Fv Leiden ◽  
Heterozygous Carriers

Background. Venous thrombosis is the most common cause of obstetric morbidity and mortality during pregnancy and puerperium. The incidence of pregnancy associated venous thrombosis varies from 1 in 1000 to 1 in 2000 deliveries. Factor V G1691A (FV Leiden), FII G20210A and MTHFR C677T mutations are the most common genetic risk factors for thromboembolism. The aim of this study was to establish the presence of these risk factors in a group of women with an episode of deep venous thrombosis during pregnancy or puerperium. Methods. The study was carried in a group of 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium. The patients with antiphospholipid antibodies, antithrombin III, protein C or protein S deficiency, and autoimmune and malignant diseases were excluded from the study. FV Leiden, FII G20210A, and MTHFR C677T mutations were detected by polymerase chain reaction, followed by digestion with specific restriction enzymes. Results. Twenty heterozygous carriers of the FV Leiden mutation and one homozygous carrier were detected, which represents the frequencies of 44.4% and 2.2%, respectively. For the FII G20210A mutation, six heterozygous carriers were identified, giving the frequency of 13.3%. The MTHFR C677T mutation was observed in 31 patients (22 heterozygous and 9 homozygous carriers) which represents the frequencies of 48.9% and 20%, respectively. Conclusion. Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.

Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation

2005 ◽  
Vol 94 (11) ◽  
pp. 965-968 ◽  
Author(s):  
Philippe de Mazancourt ◽  
Ghassan Maghzal ◽  
Stephen Brennan ◽  
Michael Mosesson ◽  
Emmanuelle de Raucourt
Keyword(s):  
Risk Factors ◽  
Mass Spectrometry ◽  
Pulmonary Embolism ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Factor V Leiden ◽  
Factor V ◽  
Thromboembolic Risk ◽  
G20210a Mutation ◽  
Prothrombin Gene

SummaryWe have identified a novel heterozygous fibrinogen γ chain mutation, γN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.

scholarly journals FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study

2011 ◽  
Vol 30 (1) ◽  
pp. 51-54
Author(s):  
Iva Salatić ◽  
Katarina Kiralj ◽  
Gorana Mitić ◽  
Igor Veselinović ◽  
Dušan Vapa
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Case Control Study ◽  
Factor V Leiden ◽  
Case Control ◽  
Factor V ◽  
Increased Risk ◽  
Fv Leiden ◽  
Heterozygous Carriers ◽  
Control Study

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control StudyBetween September 2007 and February 2010, the occurrence of symptomatic deep venous thrombosis (DVT) was investigated in a cohort of 79 consecutive patients. A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 - 52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four- to five-fold higher, whereas for homozygous carriers it is 45- to 48-fold higher than in non-carriers. These results confirm that patients with DVT and their relatives should undergo screening for FV Leiden mutation.

Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

2006 ◽  
Vol 21 (1) ◽  
pp. 24-27 ◽  
Author(s):  
A Mansilha ◽  
F Araújo ◽  
M Severo ◽  
S M Sampaio ◽  
T Toledo ◽  
...  
Keyword(s):  
Risk Factor ◽  
Young People ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Young Patients ◽  
Factor V Leiden ◽  
First Episode ◽  
Control Group ◽  
Factor V ◽  
Factor V Leiden Mutation

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

Molecular Analysis Of Patients With Deep Venous Thrombosis

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4799-4799
Author(s):  
Soudabeh Hosseeini ◽  
Ebrahim Kalantari ◽  
Akbar Dorgalaleh ◽  
Arash Rozei ◽  
Marzieh Jafari ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Mthfr C677t ◽  
Control Group ◽  
Mthfr A1298c ◽  
Increased Risk ◽  
Fv Leiden ◽  
The Impact ◽  
Pai 1

Background Deep venous thrombosis (DVT) refers to the formation of a thrombus within a deep vein that frequently occurs after surgical procedures, trauma, in the presence of cancer and immobilization conditions. DVT is a major health problem that causes high rate of morbidity and mortality in the general population. Hyper coagulation states such as antithrombin-III, protein-C and protein-S deficiencies, contribute to formation of DVT. Congenital and acquired gene mutations are other risk factors that stimulate formation of thrombus. Our aims in this study was to molecularly analyze the patients with DVT and assess the impact of common mutations of MTHFR (C677T) (A1298C), PAI-1, Prothrombin 20210 and FV Leiden mutation on occurrence of deep venous thrombosis. Methods This long-term study was conducted from June 2009 to July 2013 on 221 patients with deep venues thrombosis. Two hundred and twenty-one age and sex matched individuals were also chosen as control group. The diagnosis of venous thromboembolic disease was based on patient’s history, clinical findings and D-dimer test. Finally deep venous thrombosis was confirmed with Doppler ultrasonography. In addition, all participants were asked to complete a standardized questionnaire on acquired risk factors for venous thrombosis. After confirmation of DVT, both groups were assessed molecularly for five mutations including, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, Prothrombin 20210 and FV Leiden. The relationship between these mutations and the risk of DVT was calculated using logistic regression and expressed as an OR with a 95% confidence interval (CI). Results The mean age of patients and control group were 38±0.8 and 3.7± 0.7 years. Our results revealed that the MTHFR C677T (OR 2.9, 95% 95% CI 1.1 to 7.5) and MTHFR A1298C in heterozygote manner (OR 4.3, 95% CI 1.4 to 13.7) were each associated with an increased risk of DVT. The OR associated with being a carrier of the PAI-1 4G/5G genotype was 2.9 (95% CI 1.14 to 7.5). There was a 4-fold increased risk of DVT associated with Prothrombin 20210 mutation in heterozygote manner (OR 4.3, 95% CI 1.4 to 13.7). For patients who were heterozygous for FV Leiden mutation OR DVT was 2.6 (95% CI 1.3 to 5.0). Conclusion Our findings suggest that genetic risk factors have a contributory role on occurrence of DVT. Disclosures: No relevant conflicts of interest to declare.

Correlation of Genetic Polymorphisms Detected by Geneohm EPLEX™ Electrochemical Platform with Functional Study for Venous Thrombosis.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4054-4054
Author(s):  
Bo Xu ◽  
Steven Thompson ◽  
Carol Koenigberger ◽  
James Pettay ◽  
Arkadiy Silbergleit ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Genetic Polymorphisms ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Plasma Homocysteine ◽  
Functional Study ◽  
Prothrombin G20210a ◽  
Factor V ◽  
History Of

Abstract Venous thrombosis (VT) is a multi-factorial disorder with both congenital and acquired risk factors. Mutations in several genes, such as factor V, prothrombin and methylene tetrahydrofolate reductase (MTHFR), are considered risk factors for thrombophilia. Since multiple mutations compound the risk for (VT), simultaneous discovery of mutations could directly alter patient management. In this study, we employed the GeneOhm ePlex™ platform to simultaneously detect genetic polymorphisms for six markers: factor V Leiden (FVL) and HR2A45374G, prothrombin G20210A, MTHFR C677T and A1298C, and plasminogen activator inhibitor 1 (4G/5G). Fifty-one patient samples were selected. Each sample was genotyped for all six markers on the GeneOhm ePlex™ electrochemical array and data from functional studies were analyzed and compared to the genotyping results. Among the 51 patients, 16 were tested for activated protein C resistance and the average values were 1.22, 1.76 and 2.64 for FVL homozygous, heterozygous and wild type normal patients, respectively. In addition, the average plasma homocysteine levels measured in 17 patients were 15.40, 6.42 and 11.93, 12.63 mmol/L for MTHFR C677T homozygous, heterozygous and MTHFR A1298C heterozygous and C677T/A1298C double heterozygous, respectively. Furthermore, 10 out of 11 patients with history of deep venous thrombosis (DVT) and/or pulmonary embolism (PE) displayed genetic abnormalities in FVL or prothrombin G20210A. The other patient with history of both DVT and PE showed homozygous in MTHFR C677T with high plasma homocysteine level (22.3 mmol/L) and heterozygous mutation in PAI-1. This study demonstrates the principle of multiplexed molecular diagnostics for the polymorphisms associated with thrombophilia and the utility of the GeneOhm ePlex platform. The study is being expanded to test a larger set of samples to establish the relationship between genetic polymorphism and corresponding clinical outcome for all six markers.

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.

A Case Control Study of Deep Venous Thrombosis in Relation to Factor V G1691A (Leiden) and A4070G (HR2 Haplotype) Polymorphisms.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4095-4095
Author(s):  
Wassim Y. Almawi ◽  
Lobna Borgi-Bouaziz ◽  
Hezard Nathalie ◽  
Nguyen Philipe ◽  
Mahjoub Touhami
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Activated Protein C ◽  
Significant Risk ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Significant Risk Factor ◽  
Factor V ◽  
Haplotype Allele ◽  
Fv Leiden

Abstract Activated protein C resistance (APCR) is a significant risk factor for venous thromboembolism (VTE), and the factor V (FV) gene mutations G1691A (FV-Leiden) account for the majority of inherited APCR cases. An additional FV gene mutation, the A4074G (FV-HR2), was recently reported to induce a risk of VTE by some but not all groups. The aim of this study was to determine the prevalence of single and combined SNPs in 126 patients with documented deep venous thrombosis (DVT), and 197 control Tunisian subjects. The frequencies of FV-Leiden A allele (p <0.001; OR = 5.031), and HR2 G allele (p = 0.014; OR = 2.463) were significantly higher among DVT patients. Genotype differences were found between FV-Leiden G/A (p <0.001; OR = 3.936) and A/A (p = 0.013; OR = 11.529), but not HR2 A/G genotypes (p = 0.862; OR = 1.166), between patients and controls. While no linkage disequilibrium was noted between the FV 1691A and 4070G or A alleles, higher prevalence of the 1691G/4070G (p = 0.002; OR = 5.189) and the 1691A/4070A (p = 0.007; OR = 3.670) were noted among DVT patients than in control subjects. Collectively, this indicates that FV-Leiden, and to a lower extent HR2 haplotype, are important independent risk factors for DVT, and that their coinheritance does not increase significantly the DVT risk imparted by either. Factor V-Leiden and HR2 Haplotype Allele and Genotype Analysis Cases Controls P OR Factor V-Leiden G 0.8492 0.9670 0.004 0.087 A 0.1508 0.0609 <0.001 5.031 G/G 0.754 0.939 <0.001 0.199 G/A 0.190 0.056 <0.001 3.936 A/A 0.056 0.005 0.013 11.529 HR2 Haplotype A 0.8913 0.9492 1.000 0.352 G 0.1087 0.0508 0.014 2.463 A/A 0.855 0.873 0.862 0.858 A/G 0.145 0.127 0.862 1.166 G/G 0.000 0.000

The Risk of Recurrent Deep Venous Thrombosis among Heterozygous Carriers of Both Factor V Leiden and the G20210A Prothrombin Mutation

1999 ◽  
Vol 341 (11) ◽  
pp. 801-806 ◽  
Author(s):  
Valerio De Stefano ◽  
Ida Martinelli ◽  
Pier Mannuccio Mannucci ◽  
Katia Paciaroni ◽  
Patrizia Chiusolo ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Mutation ◽  
Heterozygous Carriers

scholarly journals Minor Events and the Risk of Deep Venous Thrombosis

2000 ◽  
Vol 83 (03) ◽  
pp. 408-411 ◽  
Author(s):  
E. M. W. Eekhoff ◽  
J. P. Vandenbroucke ◽  
F. R. Rosendaal
Keyword(s):  
Risk Factors ◽  
Confidence Interval ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Common Disease ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Synergy Index

SummaryBackground Deep venous thrombosis is a common disease, with genetic and acquired risk factors. Many patients have a history of minor events (short periods of immobilisation such as prolonged travel, short illness, minor surgery or injuries) before onset of venous thrombosis. However, the role of these minor events has received little formal study. Also, we do not know how minor events might interact with the presence of genetic prothrombotic defects (factor V Leiden mutation, factor II mutation, protein C, S and antithrombin deficiency). Patients and Methods On the basis of case-control data from a thrombosis service in the Netherlands, we added a follow-up period for a casecross-over analysis of minor events as risk factors, and a case-only analysis for the interaction with factor V Leiden. A total of 187 patients with first, objectively diagnosed venous thrombosis of the legs, aged 15–70, without underlying malignancies and without major acquired risk factors entered the study. For the analysis of minor events in the case-cross-over analysis, we used a matched odds ratio; in the caseonly analysis, we used the multiplicative synergy index. Results In 32.6% of the 187 patients with deep venous thrombosis who did not have major acquired risk factors, minor events were the only external risk factors. Minor events increased the risk of thrombosis about 3-fold, as estimated in the case-cross-over analysis (odds ratio 2.9, 95% confidence interval 1.5–5.4). The synergy index between minor events and factor V Leiden mutation in the case-only analysis was 0.7 (95% confidence interval 0.3–1.5). Therefore, persons with factor V Leiden mutation who experience a minor event will have an estimated risk increase of about 17-fold, which exceeds the sum of the individual risk factors. Conclusions Minor events are likely to play an important role in the development of deep venous thrombosis, especially in the presence of genetic prothrombotic conditions.

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