title: Genetic predisposition to molecular response in patients with myeloproliferative neoplasms treated with hydroxycarbamide.
abstract: JAK2V617F allele burden was prospectively measured in polycythemia vera (PV, n=52) and essential thrombocythemia (ET, n=39) patients receiving hydroxycarbamide (HC) and analyzed according to JAK2 46/1 haplotype and genotype of SLC14A1, SLC14A2 and ARG2 urea transporters. Molecular response (MR) was obtained in 68.7% and 38.9% of PV patients with GG and AA or GA genotype in SLC14A2, respectively (p=0.07). No significant differences were observed neither in PV nor in ET according to JAK2 46/1 haplotype, SLC14A1 and ARG2. In conclusion, JAK2 46/1 haplotype does not influence MR in HC treated patients and urea transporters polymorphisms display a minimal effect.
authors.affiliation: Department of Hematology, Hospital del Mar-IMIM, Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Angona
authors.forename: Beatriz
authors.initials: B
authors.lastname: Bellosillo
authors.forename: Alberto
authors.initials: A
authors.lastname: Alvarez-Larrán
authors.forename: Luz
authors.initials: L
authors.lastname: Martínez-Avilés
authors.forename: Laura
authors.initials: L
authors.lastname: Camacho
authors.forename: Silvia
authors.initials: S
authors.lastname: Pairet
authors.forename: Maria Concepción
authors.initials: MC
authors.lastname: Fernández-Rodriguez
authors.forename: Agueda
authors.initials: A
authors.lastname: Ancochea
authors.forename: Carles
authors.initials: C
authors.lastname: Besses
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001119:Arginase / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use*; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000188:drug therapy* / Q000235:genetics*; D017063:Outcome Assessment, Health Care; D011087:Polycythemia Vera / Q000188:drug therapy / Q000235:genetics; D011446:Prospective Studies; D013920:Thrombocythemia, Essential / Q000188:drug therapy / Q000235:genetics; D000096982:Urea Transporters
chemical_list: D000970:Antineoplastic Agents; D001119:Arginase; D006918:Hydroxyurea; D053614:Janus Kinase 2; D026901:Membrane Transport Proteins; D000096982:Urea Transporters