Abstract
JAK2 (V617F) is associated with a genetic predisposition to its acquisition,as it is preferentially found in subjects with a common constitutional JAK2 haplotype known as 46/1 or GGCC. A recent study suggests that a genetic predisposition to acquisition of MPL mutation may exist in sporadic patients, since an association was found with the JAK2 46/1 haplotype. We genotyped 509 patients with myeloproliferative neoplasms (MPN), 7% of which carrying a somatic mutation of MPL Exon 10. We found that the JAK2 GGCC haplotype was closely associated with JAK2 (V617F) (OR 1.84, P < 0.001) but not with MPL mutations (OR 0.98), suggesting a different genetic background for these molecular lesions.
Publication types
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Meta-Analysis
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Amino Acid Substitution
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Cohort Studies
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Exons
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Gene Frequency
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Genetic Association Studies
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Haplotypes*
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Humans
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Italy
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Janus Kinase 2 / genetics*
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Janus Kinase 2 / metabolism
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Mutation*
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Myeloproliferative Disorders / genetics*
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Myeloproliferative Disorders / metabolism
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Polymorphism, Single Nucleotide*
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Primary Myelofibrosis / genetics
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Primary Myelofibrosis / metabolism
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Receptors, Thrombopoietin / genetics*
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Receptors, Thrombopoietin / metabolism
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Thrombocythemia, Essential / genetics
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Thrombocythemia, Essential / metabolism
Substances
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Receptors, Thrombopoietin
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MPL protein, human
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JAK2 protein, human
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Janus Kinase 2