title: JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms.
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.
authors.affiliation: Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientiﬁco Policlinico San Matteo, Pavia, Italy. d.pietra@smatteo.pv.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Pietra
authors.forename: Ilaria
authors.initials: I
authors.lastname: Casetti
authors.forename: Matteo C
authors.initials: MC
authors.lastname: Da Vià
authors.forename: Chiara
authors.initials: C
authors.lastname: Elena
authors.forename: Chiara
authors.initials: C
authors.lastname: Milanesi
authors.forename: Elisa
authors.initials: E
authors.lastname: Rumi
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D015331:Cohort Studies; D005091:Exons; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D007558:Italy; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D055728:Primary Myelofibrosis / Q000235:genetics / Q000378:metabolism; D053628:Receptors, Thrombopoietin / Q000235:genetics* / Q000378:metabolism; D013920:Thrombocythemia, Essential / Q000235:genetics / Q000378:metabolism
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2