| The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. | |
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MedLine Citation:
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PMID: 21364191 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jasper H Smalberg; Edith Koehler; Sarwa Darwish Murad; Aurelie Plessier; Susana Seijo; Jonel Trebicka; Massimo Primignani; Moniek P M de Maat; Juan-Carlos Garcia-Pagan; Dominique C Valla; Harry L A Janssen; Frank W G Leebeek; |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-03-01 |
Journal Detail:
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Title: Blood Volume: 117 ISSN: 1528-0020 ISO Abbreviation: Blood Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-04-15 Completed Date: 2011-06-21 Revised Date: 2011-07-15 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 3968-73 Citation Subset: AIM; IM |
Affiliation:
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Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Budd-Chiari Syndrome / epidemiology, genetics* Case-Control Studies Factor V / genetics Female Genetic Predisposition to Disease / epidemiology Haplotypes Humans Janus Kinase 2 / genetics* Male Middle Aged Portal Vein* Prothrombin / genetics Risk Factors Splanchnic Circulation* Venous Thrombosis / epidemiology, genetics* |
| Chemical | |
Reg. No./Substance:
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0/factor V Leiden; 9001-24-5/Factor V; 9001-26-7/Prothrombin; EC 2.7.1.112/JAK2 protein, human; EC 2.7.10.1/Janus Kinase 2 |
| Comments/Corrections | |
Comment In:
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Blood. 2011 May 26;117(21):5777-8
[PMID:
21617012
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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