|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics.
|
31187948 |
2019 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings supported that PAI-1 rs1799889 polymorphism may serve as one of the predisposing factors of VTE in both Caucasians and East Asians, especially in these with DVT and these with Factor V Leiden mutation.
|
31701558 |
2019 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All women underwent testing for factor V Leiden mutation (FVL), mutation of the coagulation factors II (FII20210), methylenetetrahydrofolate reductase (MTHFR), plasminogen activator inhibitor-1, antithrombin III (ATIII), protein C (PC) and protein S, lupus anticoagulant (LAC) antibodies, anticardiolipin antibodies and anti-beta-2-glycoprotein-1.
|
25586317 |
2016 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We determined the genotypes for factor V Leiden (FVL) mutation, prothrombin G20210A mutation, VKORC1 -1639 G>A mutation, and PAI-1 -675 4G/5G polymorphism.
|
25976278 |
2016 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788).
|
25699610 |
2015 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, by including an interaction term in the analysis we showed that FVL but not PTM modified the effect of PAI-1 genotype: patients with the 4G allele plus FVL had a higher risk of VTE recurrence [hazard ratio (HR) =2.3, 95 % confidence interval (CI) =1.5-3.3] compared to patients with the 4G allele but no FVL (reference group) or FVL irrespective of PAI-1 genotype (HR=1.8, 95 % CI=1.3-2.5).
|
26245493 |
2015 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a total of 543 Turkish women with RPL and 327 of their male partners (870 individuals with RPL), and a control group of 106 fertile couples (control) were analyzed for factor V leiden (FVL), factor V H1299R, factor II prothrombin G20210A, FXIII V34L, β-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes.
|
22047507 |
2012 |
|
Factor V Leiden mutation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Multiple regression analysis adjusted for fibrinogen and age, showed that PAI-1 antigen and TAFI activity independently predicted CLT in FVL(+/-) women on OC.
|
22940058 |
2012 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carraige rate for each of the mutant variants of factor V Leiden (FVL) and FII genes constituted 2% of the surveyed subjects giving an allele frequency of 0.01, homozygous forms of plasminogen activator inhibitor-1 (PAI-1) gene 4G/4G, MTHFR 677TT, 1298CC, and ACE DD were present among 7.7, 2.55, 7, and 51.8% of subjects with a mutant allele frequency of 0.4, 0.19, 0.29, and 0.73, respectively.
|
22664118 |
2012 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to evaluate the effect of four hemostatic genetic variants, namely fibrinogen-beta-455G/A, factor XIII (FXIII) V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphisms and factor V Leiden (FVL) mutation on survival of critically ill patients with severe sepsis or septic shock.
|
20051843 |
2010 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This prompted us to study the occurrence of FVL and PAI-1 4G/5G polymorphisms in patients with AP.
|
19248219 |
2009 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor II (G20210A), methylenetetrahydrofolate reductase (MTHFR) (C677T and A1298C), beta-fibrinogen (-455 G>A), PAI-1 alleles 4G/5G, factor XIII (V34L), and HPA-1 (L33P).
|
19395327 |
2009 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We used simulation to estimate power for studies of three gene mutations: the 4G hypofibrinolytic mutation in the plasminogen activator inhibitor gene (PAI-1), the prothrombin G20210A mutation, and the Factor V Leiden mutation.
|
18931510 |
2009 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included.
|
17003923 |
2006 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparing 23 RVO cases < or = age 55 and controls < or = age 55 (n = 44 for PCR, n = 40 for serologic measures), RAPC was present in 17% of cases vs 0% controls (p(f) = .026), high Factor VIII in 17% vs 0% (p(f) = .026), heterozygosity for the G1691A Factor V Leiden mutation in 13% vs 2% (p(f) = 0.11), and the 4G allele frequency of the PAI-1 gene 74% vs 39% (p = .0001).
|
16244763 |
2005 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The 24 cases differed from 93 normal white female controls for the factor V Leiden mutation, 17% vs. 2%, Fisher's p [p(f)] = .016, and for the 4G4G mutation of the plasminogen activator inhibitor-1 (PAI-1) gene (46% vs. 24%, Chi-square 4.63, p =.031).
|
15497018 |
2004 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Factor V Leiden mutation and PAI-1 gene 4G/5G genotype in thrombotic patients with Behcet's disease.
|
12632020 |
2003 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.
|
14669168 |
2003 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Heterozygosity for the factor V Leiden mutation was more common in the 30 women who had PAI-1 4G/4G than in the 18 4G/4G controls (33% versus 0%, Fisher P =.008).
|
11152905 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, combinations of PT-20210A or FVL with PAI-1 (4G/4G) were significantly more frequent in APS patients (5.8%) than in normal controls (0.5%, p=0.016).
|
11454529 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that FVL and the PT-20210A are risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms do not appear to be associated with VT in our country.
|
11738073 |
2001 |