title: JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.
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.
authors: Department of Bio-Signal Analysis, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi, 755-8505, Japan.
authors: Mayumi
authors: M
authors: Tanaka
authors: Toshiaki
authors: T
authors: Yujiri
authors: Shunsuke
authors: S
authors: Ito
authors: Naoko
authors: N
authors: Okayama
authors: Toru
authors: T
authors: Takahashi
authors: Kenji
authors: K
authors: Shinohara
authors: Yoichi
authors: Y
authors: Azuno
authors: Ryouhei
authors: R
authors: Nawata
authors: Yuji
authors: Y
authors: Hinoda
authors: Yukio
authors: Y
authors: Tanizawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D044466:Asian People; D005260:Female; D006239:Haplotypes; D019337:Hematologic Neoplasms / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2