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 < 0.01). The risk for the JAK2V617F-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 JAK2V617F-positive BCS in China. In addition, low prevalence of JAK2V617F mutation in BCS patients suggested that myeloproliferative neoplasms (MPNs) should not be an etiological factor of BCS in China.
Keywords: Budd-Chiari syndrome; JAK2; SNPs; haplotypes.
© 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.