|
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 |
|
rs361525
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs17576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no statistically significant difference between the groups in terms of MMP2-735 C > T polymorphism rates.In conclusion, MMP9 gene Gln279Arg polymorphism was associated with ET, SP, and PV diseases.
|
25906101 |
2015 |
|
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 |
|
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 |
|
rs1217691063
|
|
|
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 |
|
rs397507444
|
|
|
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 |
|
rs1253570532
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.
|
23538339 |
2013 |
|
rs772889171
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.
|
23538339 |
2013 |
|
rs775387828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.
|
23538339 |
2013 |
|
rs780178275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.
|
23538339 |
2013 |
|
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 |
|
rs4495487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV.
|
22251709 |
2012 |
|
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 |
|
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 |
|
rs121913616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis.
|
19843380 |
2009 |
|
rs17849241
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report a PV patient heterozygous for the somatic JAK2(N542-E543del) mutation and a previously unreported germline mutation within the SH2 domain of SOCS3 (F136L).
|
19735488 |
2009 |
|
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 |
|
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 |