Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Clinics
;
68(1): 5-9, Jan. 2013. ilus, tab
Article
in English
| LILACS
| ID: lil-665911
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Haplotypes
/
Myeloproliferative Disorders
Type of study:
Prognostic study
/
Risk factors
Limits:
Aged
/
Aged80
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Clinics
Journal subject:
Medicine
Year:
2013
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual de Maringá (UEM)/BR
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