title: JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.
abstract: OBJECTIVE
  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.
authors: Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China.
authors: Hui
authors: H
authors: Wang
authors: Guixiang
authors: G
authors: Sun
authors: Peijin
authors: P
authors: Zhang
authors: Jing
authors: J
authors: Zhang
authors: Er
authors: E
authors: Gui
authors: Maoheng
authors: M
authors: Zu
authors: Enzhi
authors: E
authors: Jia
authors: Hao
authors: H
authors: Xu
authors: Lichun
authors: L
authors: Xu
authors: Jinpeng
authors: J
authors: Zhang
authors: Zhaojun
authors: Z
authors: Lu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D006502:Budd-Chiari Syndrome / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders; D015995:Prevalence; D012306:Risk; D055815:Young Adult
chemical_list: D053614:Janus Kinase 2
keywords: Budd-Chiari syndrome; JAK2; SNPs; haplotypes