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

被引:12
作者
Macedo, L. C. [1 ]
Santos, B. C. [1 ]
Pagliarini-E-Silva, S. [1 ]
Pagnano, K. B. B. [2 ]
Rodrigues, C. [1 ]
Quintero, F. C. [1 ]
Ferreira, M. E. [3 ]
Baraldi, E. C. [4 ]
Ambrosio-Albuquerque, E. P. [1 ]
Sell, A. M. [1 ]
Visentainer, J. E. L. [1 ]
机构
[1] Univ Estadual Maringa, Dept Ciencias Basicas Saude, BR-87020900 Maringa, Parana, Brazil
[2] Univ Estadual Campinas, Ctr Hematol & Hemoterapia Campinas, Sao Paulo, Brazil
[3] Hosp Canc Maringa, Maringa, Parana, Brazil
[4] Inst Canc Londrina, Londrina, Brazil
关键词
Myeloproliferative disorders; JAK2; human; haplotype; 46/1; V617F mutation; hematological parameters; BCR-ABL-negative; ESSENTIAL THROMBOCYTHEMIA; POLYCYTHEMIA-VERA; MUTATIONAL STATUS; V617F MUTATION; RS10974944; SNP; ALLELE BURDEN; MYELOFIBROSIS; GENE; THROMBOSIS;
D O I
10.1111/ijlh.12380
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:654 / 660
页数:7
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