|
rs199473373
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Although investigation for JAK2 V617F mutation is recommended in patients presenting with splanchnic venous thrombosis (SVT), no specific clinical advice is given to SVT patients presenting without myeloproliferative neoplasms (MPN) and JAK2 V617F mutation.
|
23916380 |
2013 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Recent research has demonstrated in patients with MPN the existence of factors increasing the risk of SVT such as the presence of the JAK2 V617F mutation and its 46/1 haplotype.
|
23855810 |
2013 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In addition, our findings in JAK2(V617F)-negative SVT patients indicate an important role for the 46/1 haplotype in the etiology and diagnosis of SVT-related MPNs, independent of JAK2(V617F), that requires further exploration.
|
21364191 |
2011 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Data from a larger number of patients with long-term follow-up are needed to reveal the clinical relevancy of JAK2 V617F in Korean patients with SVT.
|
21435189 |
2011 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Anticoagulation is the treatment of choice for all SVT and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2(V617F) mutation.
|
19478480 |
2009 |
|
rs77375493
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Anticoagulation therapy combined with low-dose aspirin and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2(V617F) mutation.
|
17687555 |
2007 |
|
rs10974944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the overall analysis, it was found that the JAK2 46/1 haplotype significantly elevated the risk of MPNs (rs10974944: C vs T: odds ratio (OR) = 2.19, 95 % confidence interval (CI) = 1.86-2.57, P < 0.0001; CC vs TT: OR = 4.63, 95 % CI = 3.32-6.47, P < 0.0001; CT vs TT: OR = 2.49, 95 % CI = 2.11-2.95, P < 0.0001; (CC + CT) vs TT: OR = 2.92, 95 % CI = 2.51-3.39, P < 0.0001; rs12343867: C vs T: OR = 1.88, 95 % CI = 1.59-2.22, P < 0.0001; CC vs TT: OR = 3.16, 95 %CI = 2.14-4.65, P < 0.0001; CT vs TT: OR = 2.04, 95 % CI = 1.51-2.74, P < 0.0001; (CC + CT) vs TT: OR = 2.25, 95 % CI = 1.73-2.95, P < 0.0001) and SVT (C vs T: OR = 1.27, 95 % CI = 1.06-1.52, P = 0.011; CC vs TT: OR = 2.33, 95 % CI = 1.42-3.81, P = 0.001; (CC + CT) vs TT: OR = 1.25, 95 % CI = 1.02-1.53, P = 0.034).
|
25015051 |
2014 |
|
rs12343867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no evidence of a significant association between the rs12343867 and the risk of SVT in the genetic model (CT vs TT: OR = 1.01, 95 % CI = 0.80-1.29, P = 0.906).
|
25015051 |
2014 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that HH and the homozygous genotype in the MTHFR C677T mutation do not seem to play a role in SVT development.
|
21070369 |
2011 |
|
rs1265538677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a multicenter case-control study on 118 patients with SVT (39 Budd-Chiari syndrome and 85 portal vein thrombosis) and 118 population-based controls, the relationship of SVT with single nucleotide polymorphisms (SNPs) and haplotypes in the TAFI gene (-438G/A, Ala147Thr, Thr325Ile and 1583A/T) was determined.
|
17264944 |
2007 |
|
rs3742264
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype analysis confirmed that the Ala147Thr SNP has the strongest association with risk of SVT.
|
17264944 |
2007 |