JAK2 46/1 haplotype is associated with JAK2 V617F - positive myeloproliferative neoplasms in Brazilian patients

• Published in: International journal of laboratory hematology Vol. 37; no. 5; pp. 654 - 660
• Main Authors: Macedo, L. C., Santos, B. C., Pagliarini-e-Silva, S., Pagnano, K. B. B., Rodrigues, C., Quintero, F. C., Ferreira, M. E., Baraldi, E. C., Ambrosio-Albuquerque, E. P., Sell, A. M., Visentainer, J. E. L.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01-10-2015
• Subjects: Alleles; BCR-ABL-negative; Brazil - epidemiology; Female; Gene Frequency; haplotype 46/1; Haplotypes; hematological parameters; Humans; JAK2 human; Janus Kinase 2 - genetics; Male; Mutation; Myeloproliferative disorders; Myeloproliferative Disorders - diagnosis; Myeloproliferative Disorders - epidemiology; Myeloproliferative Disorders - genetics; Odds Ratio; Phenotype; Polymorphism, Single Nucleotide; V617F mutation; Brazil; V617F mutation; haplotype 46/1; BCR-ABL-negative; JAK2 human; Myeloproliferative disorders; hematological parameters
• ISSN: 1751-5521; 1751-553X
• DOI: 10.1111/ijlh.12380

Summary
Introduction
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.
Conclusion
In agreement with previous reports, JAK2 46/1 haplotype for JAK2 V617F was associated with cMPN positive in Brazilian patients.