title: Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population.
abstract: OBJECTIVE
  The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. The G allele, identified by a single-nucleotide polymorphism known as JAK2 rs10974944, is part of the JAK2 46/1 haplotype. The aim of this study was to verify the association between the presence of the G allele and the development of BCR-ABL-negative chronic myeloproliferative neoplasms in our population.
  
  
  METHODS
  Blood and oral mucosa swab samples were obtained from 56 patients of two local Brazilian hospitals who had previously been diagnosed with BCR-ABL-negative chronic myeloproliferative neoplasms. Blood samples from 90 local blood donors were used as controls. The presence of the G allele was assessed using a PCR-RFLP assay after extracting DNA from the samples.
  
  
  RESULTS
  The presence of the G allele was strongly associated with the presence of BCR-ABL-negative chronic myeloproliferative neoplasms (p = 0.0001; OR = 2.674; 95% CI = 1.630-4.385) in the studied population.
  
  
  CONCLUSIONS
  In agreement with previous reports, the JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in our population.
authors: Universidade Estadual de Maringá, Departamento de Ciências Básicas da Saúde, Laboratório de Imunogenética, Maringá/PR, Brazil.
authors: Sarah
authors: S
authors: Pagliarini-e-Silva
authors: Bruna Cunha
authors: BC
authors: Santos
authors: Elizangela Mendes de Figueiredo
authors: EM
authors: Pereira
authors: Mari Ellen
authors: ME
authors: Ferreira
authors: Elaine Cristina
authors: EC
authors: Baraldi
authors: Ana Maria
authors: AM
authors: Sell
authors: Jeane Eliete Laguila
authors: JE
authors: Visentainer
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D016009:Chi-Square Distribution; D002908:Chronic Disease; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D017678:Sex Distribution; D055815:Young Adult
chemical_list: D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2