International Journal of Hematology

, Volume 110, Issue 6, pp 690–698 | Cite as

TERT and JAK2 polymorphisms define genetic predisposition to myeloproliferative neoplasms in Japanese patients

  • Masafumi Matsuguma
  • Toshiaki YujiriEmail author
  • Kaoru Yamamoto
  • Yasuko Kajimura
  • Yoshihiro Tokunaga
  • Mayumi Tanaka
  • Yoshinori Tanaka
  • Yukinori Nakamura
  • Yukio Tanizawa
Original Article


Myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are often characterized by specific somatic mutations in any of the three genes: JAK2, CALR, or MPL. A single nucleotide polymorphism (SNP), rs2736100, in the reverse transcriptase gene (TERT) and a germline JAK2 46/1 haplotype have been associated with MPNs in North American and European patients. We examined 201 Japanese MPN patients, including 52 with PV, 131 with ET, and 18 with PMF, as well as 366 control individuals for TERT rs2736100 and JAK2 rs10974944, a tagging SNP of the 46/1 haplotype. Furthermore, correlations between the JAK2 V617F allele burden at diagnosis and TERT rs2736100 or JAK2 rs10974944 were evaluated using a digital PCR assay for accurate quantitation. The JAK2 46/1 haplotype, but not the TERT rs2736100 SNP, was correlated to the JAK2 V617F mutant allele burden in JAK2 V617F-positive MPN patients. In conclusion, we demonstrated that both TERT rs2736100_C and JAK2 46/1 haplotype are predisposing factors for MPNs in Japanese patients. While TERT rs2736100_C tended to have a more general, non-specific effect on all MPNs, the JAK2 46/1 haplotype was essentially predisposed to the JAK2 V617F-positive MPNs.


Myeloproliferative neoplasms JAK2 TERT Single nucleotide polymorphisms Digital PCR 



The authors would like to thank Drs. Kenji Shinohara, Yoichi Azuno, Masatoshi Tsuru, Shinobu Imoto, Toru Takahashi, Ryouhei Nawata, Takayuki Tominaga, Koji Yamashita, Kumiko Matsui, Akiko Sugiyama, and Munehiro Suzukawa for patient enrollment. In addition, we would like to thank Dr. Yutaka Suehiro, Ms. Naoko Okayama, Ms. Yukiko Nakahara, Mr. Akihiro Morishige, and Ms. Sayuri Hayashi for their technical support during the study.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The study was approved by the institutional ethics committee of the Graduate School of Medicine, Yamaguchi University Hospital and participating affiliated hospitals.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Japanese Society of Hematology 2019

Authors and Affiliations

  • Masafumi Matsuguma
    • 1
  • Toshiaki Yujiri
    • 2
    Email author
  • Kaoru Yamamoto
    • 1
  • Yasuko Kajimura
    • 1
  • Yoshihiro Tokunaga
    • 1
  • Mayumi Tanaka
    • 1
  • Yoshinori Tanaka
    • 1
  • Yukinori Nakamura
    • 1
  • Yukio Tanizawa
    • 1
  1. 1.Division of Endocrinology, Metabolism, Hematological Sciences and TherapeuticsYamaguchi University Graduate School of MedicineUbeJapan
  2. 2.Division of Clinical Laboratory SciencesYamaguchi University Graduate School of MedicineUbeJapan

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