Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

Detalhes bibliográficos
Autor(a) principal: Pagliarini-e-Silva, Sarah
Data de Publicação: 2013
Outros Autores: Santos, Bruna Cunha, Pereira, Elizangela Mendes de Figueiredo, Ferreira, Mari Ellen, Baraldi, Elaine Cristina, Sell, Ana Maria, Visentainer, Jeane Eliete Laguila
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Clinics
Texto Completo: https://www.revistas.usp.br/clinics/article/view/52309
Resumo: 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.
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spelling Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population Myeloproliferative DisordersJAK2 HumanHaplotype 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. Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2013-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/5230910.6061/clinics/2013(01)OA02Clinics; Vol. 68 No. 1 (2013); 5-9 Clinics; v. 68 n. 1 (2013); 5-9 Clinics; Vol. 68 Núm. 1 (2013); 5-9 1980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/52309/56336Pagliarini-e-Silva, SarahSantos, Bruna CunhaPereira, Elizangela Mendes de FigueiredoFerreira, Mari EllenBaraldi, Elaine CristinaSell, Ana MariaVisentainer, Jeane Eliete Laguilainfo:eu-repo/semantics/openAccess2013-03-09T14:08:17Zoai:revistas.usp.br:article/52309Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2013-03-09T14:08:17Clinics - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
title Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
spellingShingle Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Pagliarini-e-Silva, Sarah
Myeloproliferative Disorders
JAK2 Human
Haplotype
title_short Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
title_full Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
title_fullStr Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
title_full_unstemmed Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
title_sort Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
author Pagliarini-e-Silva, Sarah
author_facet 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
author_role author
author2 Santos, Bruna Cunha
Pereira, Elizangela Mendes de Figueiredo
Ferreira, Mari Ellen
Baraldi, Elaine Cristina
Sell, Ana Maria
Visentainer, Jeane Eliete Laguila
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv 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
dc.subject.por.fl_str_mv Myeloproliferative Disorders
JAK2 Human
Haplotype
topic Myeloproliferative Disorders
JAK2 Human
Haplotype
description 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.
publishDate 2013
dc.date.none.fl_str_mv 2013-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.revistas.usp.br/clinics/article/view/52309
10.6061/clinics/2013(01)OA02
url https://www.revistas.usp.br/clinics/article/view/52309
identifier_str_mv 10.6061/clinics/2013(01)OA02
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://www.revistas.usp.br/clinics/article/view/52309/56336
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
dc.source.none.fl_str_mv Clinics; Vol. 68 No. 1 (2013); 5-9
Clinics; v. 68 n. 1 (2013); 5-9
Clinics; Vol. 68 Núm. 1 (2013); 5-9
1980-5322
1807-5932
reponame:Clinics
instname:Universidade de São Paulo (USP)
instacron:USP
instname_str Universidade de São Paulo (USP)
instacron_str USP
institution USP
reponame_str Clinics
collection Clinics
repository.name.fl_str_mv Clinics - Universidade de São Paulo (USP)
repository.mail.fl_str_mv ||clinics@hc.fm.usp.br
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