International Journal of Hematology

, Volume 97, Issue 3, pp 409–413 | Cite as

JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients

  • Mayumi Tanaka
  • Toshiaki Yujiri
  • Shunsuke Ito
  • Naoko Okayama
  • Toru Takahashi
  • Kenji Shinohara
  • Yoichi Azuno
  • Ryouhei Nawata
  • Yuji Hinoda
  • Yukio Tanizawa
Original Article

Abstract

Myeloproliferative neoplasms (MPNs) constitute a group of phenotypically diverse chronic myeloid malignancies, characterized by clonal hematopoiesis and excessive production of terminally differentiated myeloid blood cells. The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), most of which are characterized by a somatic point mutation, V617F, in the janus kinase 2 (JAK2) gene. This mutation was recently shown to occur more frequently in a specific JAK2 haplotype, JAK2 46/1, in North American and European MPN patients. Little is known, however, about JAK2 haplotypes in Japanese MPN patients. Therefore, we examined 108 Japanese patients with MPN, including 19 with PV, 61 with ET, 10 with PMF, and 17 with unclassifiable MPN, as well as 104 control individuals for the JAK2 rs10974944(C/G) single nucleotide polymorphism, in which the G allele indicates the 46/1 haplotype. We found that the JAK2 46/1 haplotype was significantly more frequent in patients with V617F-positive MPN than in controls (odds ratio [OR], 3.6; 95 % confidence interval [CI], 2.2–5.8, p < 0.001), and in PV patients than in controls (OR, 6.3; 95 % CI, 3.0–29.4, p < 0.001). In conclusion, we demonstrated that the JAK2 46/1 haplotype is associated with JAK2 V617F-positive MPNs in Japanese patients.

Keywords

Myeloproliferative neoplasms JAK2 Haplotype 

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Copyright information

© The Japanese Society of Hematology 2013

Authors and Affiliations

  • Mayumi Tanaka
    • 1
  • Toshiaki Yujiri
    • 1
  • Shunsuke Ito
    • 1
  • Naoko Okayama
    • 2
  • Toru Takahashi
    • 3
  • Kenji Shinohara
    • 4
  • Yoichi Azuno
    • 5
  • Ryouhei Nawata
    • 6
  • Yuji Hinoda
    • 2
  • Yukio Tanizawa
    • 1
  1. 1.Department of Bio-Signal AnalysisYamaguchi University Graduate School of MedicineUbeJapan
  2. 2.Department of Laboratory MedicineYamaguchi University Graduate School of MedicineUbeJapan
  3. 3.Department of HematologyYamaguchi Grand Medical CenterYamaguchiJapan
  4. 4.Department of MedicineTowa Municipal HospitalYamaguchiJapan
  5. 5.Department of MedicineYamaguchi Rosai HospitalYamaguchiJapan
  6. 6.Department of MedicineShimonoseki Kousei HospitalYamaguchiJapan

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