No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation

Jyh Pyng Gau; Chih Cheng Chen; Yi Sheng Chou; Chia Jen Liu; Yuan Bin Yu; Liang Tsai Hsiao; Jin Hwang Liu; Hui Chi Hsu; Tzeon Jye Chiou; Po Min Chen; Cheng Hwai Tzeng

doi:10.1016/j.bcmd.2015.03.009

No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation

Jyh Pyng Gau^*, Chih Cheng Chen, Yi Sheng Chou, Chia Jen Liu, Yuan Bin Yu, Liang Tsai Hsiao, Jin Hwang Liu, Hui Chi Hsu, Tzeon Jye Chiou, Po Min Chen, Cheng Hwai Tzeng

^*Corresponding author for this work

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5 Scopus citations

Abstract

The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases with diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. The frequency of 46/1 haplotype was significantly higher in JAK2V617F-positive PV (51%, p. <. 0.001) and ET (41%, p = 0.005) compared to normal controls. The exact location of JAK2V617F mutation was located at the cis-46/1 haplotype in 86.4% (32/37) PV patients and 87.5% (28/32) ET patients, respectively. Among the 51 patients of ET without JAK2V617F mutation, 38 (75%) patients harbored CALR mutations and 3 patients had MPL mutation. The frequency of 46/1 haplotype in the 38 ET patients with CALR mutations was 27%, which is not significantly different from that of normal control (p value = 0.879). Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET. We conclude that the 46/1 haplotype could have functioning effect but only in the context of JAK2V617F mutation.

Original language	English
Pages (from-to)	36-39
Number of pages	4
Journal	Blood Cells, Molecules, and Diseases
Volume	55
Issue number	1
DOIs	https://doi.org/10.1016/j.bcmd.2015.03.009
State	Published - 1 Jun 2015

Keywords

CALR mutation
Genetic polymorphism
Haplotype
JAK2 mutation
Myeloproliferative neoplasms

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10.1016/j.bcmd.2015.03.009

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Gau, J. P., Chen, C. C., Chou, Y. S., Liu, C. J., Yu, Y. B., Hsiao, L. T., Liu, J. H., Hsu, H. C., Chiou, T. J., Chen, P. M., & Tzeng, C. H. (2015). No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation. Blood Cells, Molecules, and Diseases, 55(1), 36-39. https://doi.org/10.1016/j.bcmd.2015.03.009

@article{900f1211307f41b0b76276b24bc2374d,

title = "No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation",

abstract = "The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases with diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. The frequency of 46/1 haplotype was significantly higher in JAK2V617F-positive PV (51%, p. <. 0.001) and ET (41%, p = 0.005) compared to normal controls. The exact location of JAK2V617F mutation was located at the cis-46/1 haplotype in 86.4% (32/37) PV patients and 87.5% (28/32) ET patients, respectively. Among the 51 patients of ET without JAK2V617F mutation, 38 (75%) patients harbored CALR mutations and 3 patients had MPL mutation. The frequency of 46/1 haplotype in the 38 ET patients with CALR mutations was 27%, which is not significantly different from that of normal control (p value = 0.879). Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET. We conclude that the 46/1 haplotype could have functioning effect but only in the context of JAK2V617F mutation.",

keywords = "CALR mutation, Genetic polymorphism, Haplotype, JAK2 mutation, Myeloproliferative neoplasms",

author = "Gau, {Jyh Pyng} and Chen, {Chih Cheng} and Chou, {Yi Sheng} and Liu, {Chia Jen} and Yu, {Yuan Bin} and Hsiao, {Liang Tsai} and Liu, {Jin Hwang} and Hsu, {Hui Chi} and Chiou, {Tzeon Jye} and Chen, {Po Min} and Tzeng, {Cheng Hwai}",

note = "Publisher Copyright: {\textcopyright} 2015 Elsevier Inc.",

year = "2015",

month = jun,

day = "1",

doi = "10.1016/j.bcmd.2015.03.009",

language = "English",

volume = "55",

pages = "36--39",

journal = "Blood Cells, Molecules, and Diseases",

issn = "1079-9796",

publisher = "Academic Press Inc.",

number = "1",

}

Gau, JP, Chen, CC, Chou, YS, Liu, CJ, Yu, YB, Hsiao, LT, Liu, JH, Hsu, HC, Chiou, TJ, Chen, PM & Tzeng, CH 2015, 'No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation', Blood Cells, Molecules, and Diseases, vol. 55, no. 1, pp. 36-39. https://doi.org/10.1016/j.bcmd.2015.03.009

No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation. / Gau, Jyh Pyng; Chen, Chih Cheng; Chou, Yi Sheng et al.
In: Blood Cells, Molecules, and Diseases, Vol. 55, No. 1, 01.06.2015, p. 36-39.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations

T2 - Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation

AU - Gau, Jyh Pyng

AU - Chen, Chih Cheng

AU - Chou, Yi Sheng

AU - Liu, Chia Jen

AU - Yu, Yuan Bin

AU - Hsiao, Liang Tsai

AU - Liu, Jin Hwang

AU - Hsu, Hui Chi

AU - Chiou, Tzeon Jye

AU - Chen, Po Min

AU - Tzeng, Cheng Hwai

PY - 2015/6/1

Y1 - 2015/6/1

N2 - The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases with diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. The frequency of 46/1 haplotype was significantly higher in JAK2V617F-positive PV (51%, p. <. 0.001) and ET (41%, p = 0.005) compared to normal controls. The exact location of JAK2V617F mutation was located at the cis-46/1 haplotype in 86.4% (32/37) PV patients and 87.5% (28/32) ET patients, respectively. Among the 51 patients of ET without JAK2V617F mutation, 38 (75%) patients harbored CALR mutations and 3 patients had MPL mutation. The frequency of 46/1 haplotype in the 38 ET patients with CALR mutations was 27%, which is not significantly different from that of normal control (p value = 0.879). Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET. We conclude that the 46/1 haplotype could have functioning effect but only in the context of JAK2V617F mutation.

AB - The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with CALR mutations was unknown. Totally 187 MPN cases with diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET) were recruited. The frequency of 46/1 haplotype was significantly higher in JAK2V617F-positive PV (51%, p. <. 0.001) and ET (41%, p = 0.005) compared to normal controls. The exact location of JAK2V617F mutation was located at the cis-46/1 haplotype in 86.4% (32/37) PV patients and 87.5% (28/32) ET patients, respectively. Among the 51 patients of ET without JAK2V617F mutation, 38 (75%) patients harbored CALR mutations and 3 patients had MPL mutation. The frequency of 46/1 haplotype in the 38 ET patients with CALR mutations was 27%, which is not significantly different from that of normal control (p value = 0.879). Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET. We conclude that the 46/1 haplotype could have functioning effect but only in the context of JAK2V617F mutation.

KW - CALR mutation

KW - Genetic polymorphism

KW - Haplotype

KW - JAK2 mutation

KW - Myeloproliferative neoplasms

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U2 - 10.1016/j.bcmd.2015.03.009

DO - 10.1016/j.bcmd.2015.03.009

M3 - Article

C2 - 25976465

AN - SCOPUS:84929222832

SN - 1079-9796

VL - 55

SP - 36

EP - 39

JO - Blood Cells, Molecules, and Diseases

JF - Blood Cells, Molecules, and Diseases

IS - 1

ER -

No increase of JAK2 46/1 haplotype frequency in essential thrombocythemia with CALR mutations: Functional effect of the haplotype limited to allele with JAK2V617F mutation but not CALR mutation

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