Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients

Autor: Fernanda de Cesare Quintero, Sara Pagliari-E-Silva, Jeane Eliete Laguila Visentainer, Katia B Pagnano, Josiane Bazzo de Alencar, Camila Rodrigues, Ana Maria Sell, Luciana Conci Macedo
Rok vydání: 2016
Předmět:
Adult
Male
0301 basic medicine
DNA Mutational Analysis
Population
Gene Expression
Biology
Leukemia
Myeloid
Chronic
Atypical
BCR-ABL Negative
Proinflammatory cytokine
03 medical and health sciences
0302 clinical medicine
Polycythemia vera
Myeloproliferative Disorders
hemic and lymphatic diseases
Genotype
medicine
Humans
Genetic Predisposition to Disease
Promoter Regions
Genetic
Myelofibrosis
education
Polycythemia Vera
Molecular Biology
Alleles
Aged
education.field_of_study
Polymorphism
Genetic
Tumor Necrosis Factor-alpha
Essential thrombocythemia
Case-control study
food and beverages
Cell Biology
Hematology
Janus Kinase 2
Middle Aged
medicine.disease
030104 developmental biology
Primary Myelofibrosis
Case-Control Studies
030220 oncology & carcinogenesis
Immunology
Molecular Medicine
Female
Brazil
Thrombocythemia
Essential
Zdroj: Blood Cells, Molecules, and Diseases. 57:54-57
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2015.12.005
Popis: The classical chromosome Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of disorders that share clinical, hematological, and histological features. Proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) are elevated in patients with MPN. The aim of this study was to verify the association between the polymorphisms of TNF gene (-308G/A and -238 G/A) in BCR-ABL-negative MPN in our population. Blood samples obtained from MPN patients were genotyped for the JAK2V617F mutation and both TNF polymorphisms using PCR-RFLP. Thirty three (26.8%) patients with polycythemia vera (PV), 35 (28.7%) essential thrombocythemia (ET), 22 (17.7%) primary myelofibrosis (PMF), and 33 (26.8%) with unclassifiable MPN (MPNu) were included in the study. The JAK2 V617F mutation was detected in 94 (76.42%) patients. Were observed a significant increase on the frequency of the TNF-238 GA genotype in MPN patients compared to controls (OR=2.21, 95% CI=1.02-4.80, P
Databáze: OpenAIRE
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