Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

• Autor(a) principal: Pagliarini-e-Silva, Sarah
• Data de Publicação: 2013
• Outros Autores: Santos, Bruna Cunha, Pereira, Elizangela Mendes de Figueiredo, Ferreira, Mari Ellen, Baraldi, Elaine Cristina, Sell, Ana Maria, Visentainer, Jeane Eliete Laguila
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Clinics
• Texto Completo: https://www.revistas.usp.br/clinics/article/view/52309
• topic: Myeloproliferative Disorders; JAK2 Human; Haplotype

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.