JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients

Background and Aim The presence of JAK2V617F was reported to be associated with JAK2 46/1 haplotype, which was considered as an independent risk factor for Budd‐Chiari syndrome (BCS) in Western countries. However, little is known in China. 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 October 2009 to December 2012. The subjects were detected for the JAK2V617F mutation by allele‐specific polymerase chain reaction (AS‐PCR) and the JAK2 46/1 haplotype by real‐time PCR. Results The prevalence of JAK2V617F mutation was 2.37% (7/295) in BCS patients, and 46/1 haplotype was overrepresented in JAK2V617F‐positive BCS patients compared with controls (P