|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049).
|
25698270 |
2015 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study provides evidence that a relevant proportion of cirrhotic patients with PVT harbours a JAK2 V617F mutation.
|
25115839 |
2015 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease.
|
22684349 |
2012 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD.
|
21893442 |
2011 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs.
|
18328792 |
2008 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We recommend testing for JAK2(V617F) in all patients with unexplained HVT or PVT, to identify latent MPDs and prevent potential complications.
|
19046316 |
2008 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature.
|
17687555 |
2007 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group.
|
25115839 |
2015 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05).
|
15716659 |
2005 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), protein C (PC), protein S (PS) and anti-cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age- and sex-matched healthy controls.
|
11122096 |
2000 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In contrast, the frequency of the factor V G1691A mutation was similar in subjects with portal vein thrombosis and in controls but was increased in patients with deep vein thrombosis (P = 0.0001).
|
9869612 |
1999 |
|
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group.
|
25115839 |
2015 |
|
rs1188383936
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT).
|
15947552 |
2005 |
|
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05).
|
15716659 |
2005 |
|
rs1188383936
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The heterozygous MTHFR C677T mutation was detected in 7 (24%) of 29 patients with BCS and 6 (21%) of 29 patients with PVT.
|
15198356 |
2004 |
|
rs368927897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group.
|
25115839 |
2015 |
|
rs3743251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found A/A genotype at rs3743251 of IGF1R was negatively associated with HBV related HCC [odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.20-0.72, P = 0.037]; A/G genotype decreased the risk of portal vein thrombosis (OR = 0.38, 95%CI = 0.18-0.82, P = 0.01).
|
24758241 |
2014 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT).
|
15947552 |
2005 |
|
rs778802559
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT).
|
15947552 |
2005 |