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

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

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 languageEnglish
Pages (from-to)36-39
Number of pages4
JournalBlood Cells, Molecules, and Diseases
Volume55
Issue number1
DOIs
Publication statusPublished - Jun 2015
Externally publishedYes

Keywords

  • CALR mutation
  • Genetic polymorphism
  • Haplotype
  • JAK2 mutation
  • Myeloproliferative neoplasms

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this