|
rs11999802
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using whole-genome SNP arrays, we assayed 34 T-cells and 66 granulocytes (including 32 pairs from the same patients), and identified multiple SNPs around JAK2 that are associated with PV susceptibility (rs11999802, P=1.8E-8, OR=4.4).
|
21794206 |
2011 |
|
rs2201862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the risk alleles of <i>MECOM</i> rs2201862 and <i>HBS1L</i>-<i>MYB</i> rs9376092 were demonstrated to be negatively associated with the risk of developing polycythemia vera.
|
29100304 |
2017 |
|
rs1200469268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
30772299 |
2019 |
|
rs773475680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV.
|
19167611 |
2009 |
|
rs4073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect the single nucleotide polymorphisms (SNPs), <i>IL-1</i>α (rs1800587), <i>IL-1</i>β (rs1143627, rs16944, rs1143634), <i>IL-8</i> (rs4073), and <i>TNF-</i>α (rs1799964, rs1800630, rs1799724, and rs361525) genes were genotyped in BP patients and healthy controls as well as <i>IL-8</i> (rs4073) in pemphigus vulgaris (PV) patients.
|
31001258 |
2019 |
|
rs777342222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2<sup>V617F</sup> Polycythaemia Vera (PV).
|
28550306 |
2017 |
|
rs1188383936
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, among the four mutations analyzed (factor V Leiden, prothrombin G20210A, and MTHFR 677 C > T and 1298 A > C), only factor V Leiden is a major contributor to thrombosis in polycythemia vera and essential thrombocythemia.
|
23828072 |
2014 |
|
rs754190776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hemoglobin Villejuif [beta 123(H1) Thr----Ile]: a new variant found in coincidence with polycythemia vera.
|
2816924 |
1989 |
|
rs562533120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)).
|
25849990 |
2015 |
|
rs121913499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML).
|
20410924 |
2010 |
|
rs267606870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
rs12979860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CC genotype of rs12979860 was found significantly associated with hematologic response in polycythemia vera (PV) with a complete response (CR) in 79% (CC) compared to 48% (non-CC), (P = .036).
|
29369421 |
2018 |
|
rs1057519753
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor.
|
16239216 |
2005 |
|
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 |
|
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 |