JAK 2 V 617 F mutation and 46/1 haplotype in C hinese B udd‐ C hiari syndrome patients

Background and Aim The presence of JAK 2 V 617 F was reported to be associated with JAK 2 46/1 haplotype, which was considered as an independent risk factor for B udd‐ C hiari syndrome ( BCS ) in Western countries. However, little is known in C hina. Therefore, the aim of this study was to determine whether the 46/1 haplotype is associated with such patients. Methods Patients with primary BCS and controls were consecutively admitted in our study from O ctober 2009 to D ecember 2012. The subjects were detected for the JAK 2 V 617 F mutation by allele‐specific polymerase chain reaction ( AS ‐ PCR ) and the JAK 2 46/1 haplotype by real‐time PCR . Results The prevalence of JAK 2 V 617 F mutation was 2.37% (7/295) in BCS patients, and 46/1 haplotype was overrepresented in JAK 2 V 617 F ‐positive BCS patients compared with controls ( P  < 0.01). The risk for the JAK 2 V 617 F ‐positive BCS with CC genotype was elevated compared with subjects presented TT genotype ( OR  = 13.4, 95% CI  = 2.01–89.5) and non‐ CC genotype ( OR  = 15.0, 95% CI  = 2.45–91.7). Conclusions Our study showed that the presence of 46/1 haplotype increased the risk of JAK 2 V 617 F ‐positive BCS in C hina. In addition, low prevalence of JAK 2 V 617 F mutation in BCS patients suggested that myeloproliferative neoplasms ( MPN s) should not be an etiological factor of BCS in C hina.