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

被引:0
作者
Mayumi Tanaka
Toshiaki Yujiri
Shunsuke Ito
Naoko Okayama
Toru Takahashi
Kenji Shinohara
Yoichi Azuno
Ryouhei Nawata
Yuji Hinoda
Yukio Tanizawa
机构
[1] Yamaguchi University Graduate School of Medicine,Department of Bio
[2] Yamaguchi University Graduate School of Medicine,Signal Analysis
[3] Yamaguchi Grand Medical Center,Department of Laboratory Medicine
[4] Towa Municipal Hospital,Department of Hematology
[5] Yamaguchi Rosai Hospital,Department of Medicine
[6] Shimonoseki Kousei Hospital,Department of Medicine
来源
International Journal of Hematology | 2013年 / 97卷
关键词
Myeloproliferative neoplasms; JAK2; Haplotype;
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中图分类号
学科分类号
摘要
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.
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页码:409 / 413
页数:4
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