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
DATA DE PUBLICAÇÃO
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.
- The JAK2 gene as a protagonist in chronic myeloproliferative neoplasms
- Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms
- The JAK2 V617F mutation in Philadelphia‐negative chronic myeloproliferative disorders
- Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F
- Physical association of JAK1 and JAK2 tyrosine kinases with the interleukin 2 receptor beta and gamma chains.