Premium
JAK 2 V 617 F mutation and 46/1 haplotype in C hinese B udd‐ C hiari syndrome patients
Author(s) -
Wang Hui,
Sun Guixiang,
Zhang Peijin,
Zhang Jing,
Gui Er,
Zu Maoheng,
Jia Enzhi,
Xu Hao,
Xu Lichun,
Zhang Jinpeng,
Lu Zhaojun
Publication year - 2014
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/jgh.12379
Subject(s) - haplotype , medicine , genotype , gastroenterology , mutation , polymerase chain reaction , allele , etiology , genetics , biology , gene
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.