The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis

Jasper Smalberg, E Koehler, SD Murad, A Plessier, S Seijo, J Trebicka, M Primignani, Moniek de Maat, JC Garcia-Pagan, DC Valla, HLA Janssen, Frank Leebeek

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The germline JAK2 46/1 haplotype has been associated with the development of JAK2(V617F)-positive as well as JAK2(V617F)-negative myeloproliferative neoplasms (MPNs). In this study we examined the role of the 46/1 haplotype in the etiology and clinical presentation of patients with splanchnic vein thrombosis (SVT), in which MPNs are the most prominent underlying etiological factor. The single-nucleotide polymorphism rs12343867, which tags 46/1, was genotyped in 199 SVT patients. The 46/1 haplotype was overrepresented in JAK2(V617F)-positive SVT patients compared with controls (P < .01). Prevalence of the 46/1 haplotype in JAK2(V617F)-negative SVT patients did not differ from prevalence in the controls. However, JAK2(V617F)-negative SVT patients with a proven MPN also exhibited an increased frequency of the 46/1 haplotype (P = .06). Interestingly, 46/1 was associated with increased erythropoiesis in JAK2(V617F)-negative SVT patients. We conclude that the 46/1 haplotype is associated with the development of JAK2(V617F)-positive SVT. In addition, our findings in JAK2(V617F)-negative SVT patients indicate an important role for the 46/1 haplotype in the etiology and diagnosis of SVT-related MPNs, independent of JAK2(V617F), that requires further exploration. (Blood. 2011;117(15):3968-3973)
Original languageUndefined/Unknown
Pages (from-to)3968-3973
Number of pages6
Issue number15
Publication statusPublished - 2011

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  • EMC COEUR-09
  • EMC MM-04-20-02-A

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