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• W1543214478 abstract "Abstract 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." @default.
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• W1543214478 date "2013-12-19" @default.
• W1543214478 modified "2023-10-16" @default.
• W1543214478 title "JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients" @default.
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• W1543214478 doi "https://doi.org/10.1111/jgh.12379" @default.
• W1543214478 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23980667" @default.
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