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. Budd-Chiari syndrome (BCS) is defined as hepatic venous outflow obstruction at any level from the small selleck hepatic veins to the junction of the inferior vena cava (IVC) and the right atrium, regardless of the cause of obstruction.[1-3] BCS is divided into primary when related to a primarily venous disease and secondary when resulting from compression or invasion by a lesion originating outside the veins.[2] BCS is a rare disorder with an incidence of around 1 to 2 per million inhabitants in the Western world,[4] while a relatively higher prevalence in Asia countries such as China, Japan, and India.[5] In China, Henan, Shandong, Jiangsu, and Anhui provinces in Yellow River valley are considered as areas with high prevalence.[6, 7] The etiology of BCS has been attributed to a variety of genetic and environmental factors while myeloproliferative neoplasms (MPNs) is considered to be the leading cause of MK-8669 order BCS.

A somatic mutation identified in 40–59% of patients with BCS,[8-10] and 80% of MPNs is JAK2V617F mutation providing a robust diagnostic tool.[11] The prevalence of JAK2V617F mutation in Chinese BCS and the exact role in the pathogenic mechanism is unclear. Further somatic mutations have been reported in JAK2V617F-negative MPNs and BCS patients, including a cluster

of different mutations in exon 12 of JAK2, MPLW515L/K mutation, Factor V Leiden (FVL) mutation, MCE公司 and prothrombin G20210A mutation.[12-15] Recently, a series of studies showed that the presence of JAK2V617F is associated with an inherited JAK2 46/1 haplotype in MPNs and BCS.[16-19] Simultaneously, other studies suggested this haplotype also frequently occurs in JAK2V617F-negative BCS patients.[20, 21] These findings all implied that JAK2 46/1 haplotype might represent as a susceptible locus for the development of BCS. To investigate whether JAK2 46/1 haplotype is associated with BCS patients in China, we conducted a case-control study in Chinese individuals. We performed the study in the hospital affiliated to Xuzhou Medical Collage, China. Two-hundred and ninety-five Chinese BCS patients aged 10–79 years were involved in this study. BCS was diagnosed by Doppler ultrasound, computed tomography(CT), magnetic resonance imaging (MRI) and angiography according to the previously published criteria.[1] Outflow obstruction caused by hepatic veno-occlusive disease and cardiac disorders were excluded.