|
rs104893634
|
|
|
0.810 |
GeneticVariation |
BEFREE |
HOXD10 M319K mutation in a family with isolated congenital vertical talus.
|
16450407 |
2006 |
|
rs104893634
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
|
15146389 |
2004 |
|
rs104893634
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1207534366
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908425
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554122802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs753317536
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs797045412
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1926447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, TAFI rs3742264, rs2146881, and rs1926447 polymorphisms do not increase the risk of CVT in comparison to healthy controls.
|
29629564 |
2018 |
|
rs1926447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
For genetic factors, CVT risk increased in the presence of factor V Leiden (G1691A) by 2.5-fold (1.9-3.3), protein C deficiency 10.7-fold (3.1-37.7), protein S deficiency 5.7-fold (1.4-22.4), antithrombin deficiency 3.8-fold (1.0-13.8), prothrombin (G20210A) 5.5-fold (4.0-7.27) and TAFI gene variant (C1040T) 1.6-fold (1.0-2.4).
|
30005273 |
2018 |
|
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |
|
rs1926447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases.
|
24252537 |
2014 |
|
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059).
|
25042466 |
2014 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, neither the FII-G20210 (p=0.536) nor the homozygous MTHFR-C677T genotype (p=0.325) variant contributed to the risk of CVT in these Tunisian patients.
|
22721898 |
2012 |
|
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
JAK2 V617F was positive in four out of seven patients with PVT and in one CVT patient.
|
21893442 |
2011 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report a case of cerebral venous thrombosis (CVT) due to tyrotoxicosis in a patient with methylenetetrahydro-folate-reductase (MTHFR) gene polymorphism C677T, (genotype 677TT), in which discontinuation of intravenous heparin was followed by clinical and radiological worsening despite warfarin treatment.
|
18941937 |
2008 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report three patients with cerebral vein thrombosis (CVT) in which the only risk factor we were able to identify was increased blood homocysteine levels and the C677T polymorphism in both alleles of the methylene tetrahydrofolate reductase MTHFR gene.
|
12522678 |
2002 |
|
rs3742264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analyzed the association between CVT and TAFI single-nucleotide polymorphisms (rs3742264, rs2146881, and rs1926447) compared to healthy controls.
|
29629564 |
2018 |
|
rs3742264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases.
|
24252537 |
2014 |
|
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients.
|
22721898 |
2012 |
|
rs899127658
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients.
|
22721898 |
2012 |
|
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Statistically significant associations with CVT were found for factor V Leiden/G1691A (OR=2.40; 95% CI, 1.75 to 3.30; P<0.00001) and prothrombin/G20210A (OR=5.48; 95% CI, 3.88 to 7.74; P<0.00001).
|
21350198 |
2011 |
|
rs899127658
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Statistically significant associations with CVT were found for factor V Leiden/G1691A (OR=2.40; 95% CI, 1.75 to 3.30; P<0.00001) and prothrombin/G20210A (OR=5.48; 95% CI, 3.88 to 7.74; P<0.00001).
|
21350198 |
2011 |
|
rs121918474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The possibility of PS K196E mutation should be considered if other causes of CVT are ruled out and if protein S activity is decreased.
|
30352753 |
2019 |
|
rs2146881
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the association between CVT and TAFI single-nucleotide polymorphisms (rs3742264, rs2146881, and rs1926447) compared to healthy controls.
|
29629564 |
2018 |