title: JAK2 46/1 haplotype is associated with JAK2 V617F--positive myeloproliferative neoplasms in Brazilian patients.
abstract: BACKGROUND
  This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR-ABL-negative chronic myeloproliferative neoplasms (cMPNs) in our population.
  
  
  METHODS
  The blood samples obtained from the patients with cMPN were genotyped for the JAK2 V617F mutation and JAK2 rs10974944 SNP screening using a PCR-RFLP assay.
  
  
  RESULTS
  The JAK2 V617F mutation was detected in 80.15% of patients. The G variant of rs10974944 was more frequent in all MPNs, especially those that were JAK2 V617F positive, than in the control population. We also compared the 46/1 haplotype status in each MPN disease entity, polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), and MPNu with controls. The G allele frequency relative to controls was significantly enriched in patients with PV and ET, but not in those with PMF and MPNu. PV and ET patients especially, all of whom had the JAK2 V617F mutation, showed significant excess of the G allele. The frequency of JAK2 V617F mutation was associated with elevated hematological parameters, but when we analyze the occurrence of the mutation and the presence of the G allele, just the high hemoglobin was significantly.
  
  
  CONCLUSIONS
  In agreement with previous reports, JAK2 46/1 haplotype for JAK2 V617F was associated with cMPN positive in Brazilian patients.
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: L C
authors.initials: LC
authors.lastname: Macedo
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: B C
authors.initials: BC
authors.lastname: Santos
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: S
authors.initials: S
authors.lastname: Pagliarini-e-Silva
authors.affiliation: Centro de Hematologia e Hemoterapia de Campinas, Universidade Estadual de Campinas, São Paulo, Brazil.
authors.forename: K B B
authors.initials: KB
authors.lastname: Pagnano
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: C
authors.initials: C
authors.lastname: Rodrigues
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: F C
authors.initials: FC
authors.lastname: Quintero
authors.affiliation: Hospital do Câncer de Maringa, Maringa, Brazil.
authors.forename: M E
authors.initials: ME
authors.lastname: Ferreira
authors.affiliation: Instituto do Câncer de Londrina, Londrina, Brazil.
authors.forename: E C
authors.initials: EC
authors.lastname: Baraldi
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: E P
authors.initials: EP
authors.lastname: Ambrosio-Albuquerque
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: A M
authors.initials: AM
authors.lastname: Sell
authors.affiliation: Departamento de Ciências Básicas da Saúde, Universidade Estadual de Maringá, Maringá, Brazil.
authors.forename: J E L
authors.initials: JE
authors.lastname: Visentainer
mesh_terms: D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D053614:Janus Kinase 2
keywords: BCR-ABL-negative; JAK2 human; Myeloproliferative disorders; V617F mutation; haplotype 46/1; hematological parameters