rs10815148
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
rs10974947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
rs121912473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One harbored a 33 bp duplication in exon 12 along with an exon 14 p.V617F mutation, another had an exon 12 p.H538_K539delinsL, and a third carried a previously unreported mutation in PV, p.L611S, alone, and in cis with p.V617F.
|
22642932 |
2012 |
rs12339666
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When stratified by disease subtypes, the <i>JAK2</i> 46/1 haplotype and <i>JAK2</i> rs12339666 were significantly associated with all three MPN subtypes, but <i>TERT</i> rs2736100 was only associated with essential thrombocythemia and polycythemia vera.
|
29100304 |
2017 |
rs12342421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
rs3808850
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
rs4495487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV.
|
22251709 |
2012 |
rs7046736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis.
|
17262192 |
2007 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation.
|
20660330 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias.
|
21198321 |
2011 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions.
|
22333011 |
2012 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Because the erythropoietin, thrombopoietin, and granulocyte colony-stimulating factor receptors are all constitutively activated, polycythemia vera is the potential ultimate clinical phenotype of the JAK2 V617F mutation and, as a corollary, is the most common of the 3 disorders.
|
20194236 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.
|
22411871 |
2012 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positive.
|
16919893 |
2007 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis).
|
20528738 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JUNB was one of the genes upregulated in PV, and we confirmed, by quantitative real-time PCR, an overexpression of JUNB in hematopoietic cells of other JAK2 V617F PV patients.
|
18843287 |
2009 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %.
|
24362471 |
2014 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08).
|
19843380 |
2009 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques.
|
19877761 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples.
|
23807288 |
2013 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis.
|
18616871 |
2008 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F-positive ET and P</span>V displayed significant differences in their serum protein profiles.
|
18838204 |
2008 |