JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms
Copyright policy )JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms
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.
- University of Milan Italy
- University of Pavia Italy
- University of Pavia Italy
haplotype, Myeloproliferative Disorders, MPL, 610, Exons, Janus Kinase 2, Polymorphism, Single Nucleotide, Cohort Studies, JAK2, Amino Acid Substitution, Gene Frequency, Haplotypes, Italy, Primary Myelofibrosis, Mutation, Humans, Receptors, Thrombopoietin, Alleles, Genetic Association Studies, Thrombocythemia, Essential
haplotype, Myeloproliferative Disorders, MPL, 610, Exons, Janus Kinase 2, Polymorphism, Single Nucleotide, Cohort Studies, JAK2, Amino Acid Substitution, Gene Frequency, Haplotypes, Italy, Primary Myelofibrosis, Mutation, Humans, Receptors, Thrombopoietin, Alleles, Genetic Association Studies, Thrombocythemia, Essential
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