rs8176719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single variant association testing using logistic regression analysis identified rs8176719 insertion/deletion (indel) variant in the ABO gene associated with CVT (age and sex adjusted OR 2.03; 95% CI 1.52-2.73; P = 2.07 × 10<sup>-6</sup>; Bonferroni P = 0.008).
|
30029070 |
2018 |
rs797045412
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
rs121908425
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs753317536
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
rs1188383936
|
|
|
0.010 |
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 |
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 |
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 |
rs201058276
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that the FVII R353Q polymorphism is not associated with increased risk for CVT occurring during the puerperal period in Indian women.
|
22136731 |
2012 |
rs1554122802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs189468720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8).
|
26729820 |
2016 |
rs104893634
|
|
|
0.810 |
GeneticVariation |
BEFREE |
HOXD10 M319K mutation in a family with isolated congenital vertical talus.
|
16450407 |
2006 |
rs104893634
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104893634
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
|
15146389 |
2004 |
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
JAK2 V617F was positive in four out of seven patients with PVT and in one CVT patient.
|
21893442 |
2011 |
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 |
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 |
rs368927897
|
|
|
0.010 |
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 |