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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
15
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pubmed:dateCreated |
2011-4-15
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pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1528-0020
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pubmed:author |
pubmed-author:Darwish MuradSarwaS,
pubmed-author:European Network for Vascular Disorders of the Liver (EN-Vie),
pubmed-author:Garcia-PaganJuan-CarlosJC,
pubmed-author:JanssenHarry L AHL,
pubmed-author:KoehlerEdithE,
pubmed-author:LeebeekFrank W GFW,
pubmed-author:PlessierAurelieA,
pubmed-author:PrimignaniMassimoM,
pubmed-author:SeijoSusanaS,
pubmed-author:SmalbergJasper HJH,
pubmed-author:TrebickaJonelJ,
pubmed-author:VallaDominique CDC,
pubmed-author:de MaatMoniek P MMP
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
117
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3968-73
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pubmed:dateRevised |
2011-7-15
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pubmed:meshHeading |
pubmed-meshheading:21364191-Adult,
pubmed-meshheading:21364191-Budd-Chiari Syndrome,
pubmed-meshheading:21364191-Case-Control Studies,
pubmed-meshheading:21364191-Factor V,
pubmed-meshheading:21364191-Female,
pubmed-meshheading:21364191-Genetic Predisposition to Disease,
pubmed-meshheading:21364191-Haplotypes,
pubmed-meshheading:21364191-Humans,
pubmed-meshheading:21364191-Janus Kinase 2,
pubmed-meshheading:21364191-Male,
pubmed-meshheading:21364191-Middle Aged,
pubmed-meshheading:21364191-Portal Vein,
pubmed-meshheading:21364191-Prothrombin,
pubmed-meshheading:21364191-Risk Factors,
pubmed-meshheading:21364191-Splanchnic Circulation,
pubmed-meshheading:21364191-Venous Thrombosis
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pubmed:year |
2011
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pubmed:articleTitle |
The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis.
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pubmed:affiliation |
Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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