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Is the JAK2 V617F mutation a hallmark for a different forms of thrombosis?Žerjavič, Katja ...Background/Aims: The association between venous thrombosis outside the splanchnic area as well arterial thromboembolism and the JAK2 V617F mutation, an important marker for chronic myeloproliferative ... neoplasms (MPN), is not completely clear. Methods: Four hundred forty-four patients with venous thrombosis of the lower/upper limbs and/or pulmonary embolism and 60 patients with ischemic stroke were screened for the JAK2 V617F mutation, factor V Leiden, and factor II G20210A. Results: The JAK2 V617F mutation was detected in 1.4% of patients with venous thrombosis and in 3.3% of patients with ischemic stroke. Because 6 out of 2,430 control individuals with no medical history of venous thrombosis, stroke, or MPN were positive for the JAK2 V617F mutation, a significant association was observed (OR 5.53, CI 1.77-17.2, p = 0.0053 for venous thrombosis; OR 13.9, CI 2.75-70.5, p = 0.0145 for stroke). Conclusion: We provide evidence of the association between the JAK2 V617F mutation and different forms of thrombosis. This association is comparable with the association between inherited risk factors (factor V Leiden and factor II G20210A) and thrombotic events, but with a much lower prevalence of the mutation. Finally, the JAK2 V617F mutation is not absent from the general population despite being considered somatic and an acquired genetic variation.Source: Acta Haematologica. - ISSN 0001-5792 (Vol. 124, no. 1, 2010, str. 49-56)Type of material - article, component part ; adult, seriousPublish date - 2010Language - englishCOBISS.SI-ID - 3691839
Author
Žerjavič, Katja |
Zagradišnik, Boris |
Stangler Herodež, Špela |
Lokar, Lidija |
Glaser, Marjana |
Kokalj-Vokač, Nadja
Topics
Myeloproliferative Disorders |
Mieloproliferativne motnje |
Polymerase Chain Reaction |
Polimerazna verižna reakcija |
Venous Thromboembolism |
Venski trombembolizem |
Genes |
Geni |
Mutation |
Mutacija |
Genetics, Medical |
Medicinska genetika |
factor II G20210A |
factor V Leiden |
JAK2 V617F
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Žerjavič, Katja | 28404 |
Zagradišnik, Boris | 18205 |
Stangler Herodež, Špela | 20200 |
Lokar, Lidija | 92783 |
Glaser, Marjana | 15864 |
Kokalj-Vokač, Nadja | 13343 |
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