5% and 40%, respectively. Then, Regina et al.[23] found that JAK2V617F was specifically associated with idiopathic splanchnic

vein thrombosis, with a prevalence of 18.2% in BCS patients. In India, several studies[25, 26] also conducted to detect such mutation which ranged from 8.8% to 40%. Compared with previous studies, our study showed a low prevalence in Chinese BCS patients, which was significantly lower than 37% reported in a recent meta-analysis.[27] The contradictory results could be explained by the known different incidences of MPNs in BCS. Our result was consistent Transmembrane Transporters activator with another study conducted in China (4.3%),[28] which indicated that MPNs could be an uncommon risk factor of BCS in China. In the year of 2007, JAK2V617F mutation was detected in a large Chinese hospital population by Xu et al.[29] The 37 samples from a total of 3935 were found to be positive cases whose red cell counts, white blood, and platelet counts were all within the normal range. This data suggested that the selleck compound JAK2V617F mutation was apparently much more common than MPNs in Chinese, which confirmed our conclusion from another point. Furthermore, higher levels of prothrombin time and international normalized ratio were closely associated with JAK2V617F mutation in Chinese BCS patients which was different from previous reports with elevated peripheral blood cell counts.[16,

22] Given low prevalence of JAK2V617F mutation, further study needs to confirm these findings. Additionally, Andrikovics H[21] reported that JAK2V617F-associated disease was highly associated with a specific haplotype named JAK2 46/1 haplotype which was a 280 kb-long region on chromosome 9p including the entire JAK2, INSL6, and INSL4 genes. In our

study, we found that the JAK2 46/1 haplotype frequency was similar between BCS and controls. It is noteworthy that only one previous study[16] examined the role of 46/1 haplotype in BCS on larger number of patients, which showed the 46/1 haplotype presented more frequently in patients. Docetaxel cell line In this study, JAK2V617F positive patients accounted for 32% in overall BCS while 2.37% in our study; could this be the reason leading to different prevalence of 46/1 haplotype? But to date, it is not clear why JAK2V617F mutation is associated with a particular inherited haplotype, and two hypotheses have been suggested,[18, 30, 31] the hypermutability hypothesis and fertile ground hypothesis. The first hypothesized that 46/1 may be more easily to acquire V617F mutation than other haplotypes for its genetic instability. The second hypothesis suggested that V617F may appear on all haplotypes with same rate, but 46/1 may carry specific properties that either give a selective advantage to the V617F-positive clone or gain proliferative advantage in some way. Nevertheless, our result showed that the risk of BCS occurrence significantly elevated in JAK2V617F-positive patients in homozygous carriers of 46/1 compared with noncarriers.