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Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Pagliarini-e-Silva, Sarah; Santos, Bruna Cunha; Pereira, Elizangela Mendes de Figueiredo; Ferreira, Mari Ellen; Baraldi, Elaine Cristina; Sell, Ana Maria; Visentainer, Jeane Eliete Laguila.
  • Pagliarini-e-Silva, Sarah; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Santos, Bruna Cunha; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Pereira, Elizangela Mendes de Figueiredo; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Ferreira, Mari Ellen; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Baraldi, Elaine Cristina; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Sell, Ana Maria; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
  • Visentainer, Jeane Eliete Laguila; Universidade Estadual de Maringá (UEM). Departamento de Ciências Básicas da Saúde. Laboratório de Imunogenética. Maringá. BR
Clinics ; 68(1): 5-9, Jan. 2013. ilus, tab
Article in English | LILACS | ID: lil-665911
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.

CONCLUSION:

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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Haplotypes / Myeloproliferative Disorders Type of study: Prognostic study / Risk factors Limits: Aged / Aged80 / Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Clinics Journal subject: Medicine Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Maringá (UEM)/BR

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Full text: Available Index: LILACS (Americas) Main subject: Haplotypes / Myeloproliferative Disorders Type of study: Prognostic study / Risk factors Limits: Aged / Aged80 / Female / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Clinics Journal subject: Medicine Year: 2013 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Maringá (UEM)/BR