These authors contributed equally to this work.
JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients
Article first published online: 19 DEC 2013
© 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd
Journal of Gastroenterology and Hepatology
Volume 29, Issue 1, pages 208–214, January 2014
How to Cite
Wang, H., Sun, G., Zhang, P., Zhang, J., Gui, E., Zu, M., Jia, E., Xu, H., Xu, L., Zhang, J. and Lu, Z. (2014), JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. Journal of Gastroenterology and Hepatology, 29: 208–214. doi: 10.1111/jgh.12379
Potential conflicts of interest: The authors declare no conflicts of interest.
- Issue published online: 19 DEC 2013
- Article first published online: 19 DEC 2013
- Accepted manuscript online: 23 AUG 2013 06:05AM EST
- Manuscript Accepted: 9 AUG 2013
- National Natural Science Foundation of China. Grant Number: 81172604
- Budd-Chiari syndrome;
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.
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.
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).
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.