International Journal of Hematology

, Volume 96, Issue 5, pp 611–616 | Cite as

The JAK2 46/1 haplotype is a risk factor for myeloproliferative neoplasms in Chinese patients

  • Xinju Zhang
  • Tingting Hu
  • Zhiyuan Wu
  • Zhihua Kang
  • Weiwei Liu
  • Ming Guan
Original Article


The presence of JAK2 V617F is associated with an inherited JAK2 46/1 haplotype, a risk factor for myeloproliferative neoplasms (MPN) in Caucasian populations. Whether the JAK2 46/1 haplotype is also a risk factor in the Chinese population is unknown. We assessed for the JAK2 46/1 haplotype and JAK2 V617F mutation in 225 MPN patients and 226 controls using a tagged SNP rs12340895. The allele frequencies of the JAK2 46/1 haplotype were distinct among different subtypes of MPN patients. The allele frequency was significantly higher in polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) than that in controls, with PV patients having the highest allele frequency (0.58, P = 6.00E−15). The distribution of rs12340895 genotypes in the JAK2 V617F mutated MPN patients was significantly different from that in controls (P = 1.67E−15). The percentage of GG genotype in controls was 2.2 %, but 31.0 % in JAK2 V617F-positive MPN patients. All the PV, ET, and PMF patients with the GG genotype also exhibited the V617F mutation. Compared to that of controls, the difference in genotype distribution in PV patients was the most significant (P = 4.83E−21), followed by ET (P = 2.07E−05) and PMF (P = 1.99E−04). Our results suggest that the JAK2 46/1 haplotype is a risk factor for MPN in the Chinese population, and patients with GG genotype in rs12340895 locus are susceptible to JAK2 V617F mutation.


JAK2 V617F SNP Myeloproliferative neoplasms 



This study was supported by a grant from the National Clinical Key Subject, and two grants from the Shanghai Science and Technology Commission (Grant No. 11JC1401800 and No. 10411950200) and Scientific Research Foundation for New teacher of Fudan University (JJF151002).

Conflict of interest

The authors declare that they have no conflict of interests.


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Copyright information

© The Japanese Society of Hematology 2012

Authors and Affiliations

  1. 1.Department of Central Laboratory, Huashan HospitalShanghai Medical College, Fudan UniversityShanghaiPeople’s Republic of China
  2. 2.Department of Laboratory Medicine, Huashan HospitalShanghai Medical College, Fudan UniversityShanghaiPeople’s Republic of China

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