DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population

Detalhes bibliográficos
Autor(a) principal: Azevedo, Ana P
Data de Publicação: 2017
Outros Autores: Silva, Susana N, de Lima, João P, Reichert, Alice, Lima, Fernando, Júnior, Esmeraldina, Rueff, José
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/26649
Resumo: The authors gratefully acknowledge all patients and controls who generously participated in the present study. Our appreciation and thanks are extended to laboratory technicians, Mrs. Luisa Manso Oliveira, Mrs. Silvia Morgado Amaro and Miss Ines Sousa, (Department of Clinical Pathology, Hospital de Sao Francisco Xavier, Centro Hospitalar de Lisboa Ocidental) for their expert technical assistance. The present study was supported by funding through the project no. UID/BIM/00009/2013 from the Science and Technology Foundation of Portugal, which also awarded a Post-Doctoral Research grant to S.N.S. (grant no. SFRH/BPD/80462/2011).
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spelling DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese populationThe role of base excision repair genes polymorphismsPhiladelphia‑negative myeloproliferative neoplasmsgenetic susceptibilitybase excision repair genes polymorphismsDNA repairSDG 3 - Good Health and Well-beingThe authors gratefully acknowledge all patients and controls who generously participated in the present study. Our appreciation and thanks are extended to laboratory technicians, Mrs. Luisa Manso Oliveira, Mrs. Silvia Morgado Amaro and Miss Ines Sousa, (Department of Clinical Pathology, Hospital de Sao Francisco Xavier, Centro Hospitalar de Lisboa Ocidental) for their expert technical assistance. The present study was supported by funding through the project no. UID/BIM/00009/2013 from the Science and Technology Foundation of Portugal, which also awarded a Post-Doctoral Research grant to S.N.S. (grant no. SFRH/BPD/80462/2011).The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8‑oxoguanine DNA glycosylase 1, poly (ADP‑ribose) polymerase (PARP) 1, PARP4 and X‑ray repair cross‑complementing 1 (XRCC1)] in a case‑control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN‑MPNs when considered as a whole. However, stratification for essential thrombocythaemia revealed i) borderline effect/tendency to increased risk when carrying at least one variant allele for XRCC1_399 single‑nucleotide polymorphism (SNP); ii) decreased risk for Janus kinase 2‑positive patients carrying at least one variant allele for XRCC1_399 SNP; and iii) decreased risk in females carrying at least one variant allele for MUTYH SNP. Combination of alleles demonstrated an increased risk to PN‑MPNs for one specific haplogroup. These findings may provide evidence for gene variants in susceptibility to MPNs. Indeed, common variants in DNA repair genes may hamper the capacity to repair DNA, thus increasing cancer susceptibility.Centre for Toxicogenomics and Human Health (ToxOmics)RUNAzevedo, Ana PSilva, Susana Nde Lima, João PReichert, AliceLima, FernandoJúnior, EsmeraldinaRueff, José2017-12-11T23:36:24Z2017-062017-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10application/pdfhttp://hdl.handle.net/10362/26649eng1792-1074PURE: 2790623https://doi.org/doi.org/10.3892/ol.2017.6065info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-10T15:41:18ZPortal AgregadorONG
dc.title.none.fl_str_mv DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
The role of base excision repair genes polymorphisms
title DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
spellingShingle DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
Azevedo, Ana P
Philadelphia‑negative myeloproliferative neoplasms
genetic susceptibility
base excision repair genes polymorphisms
DNA repair
SDG 3 - Good Health and Well-being
title_short DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
title_full DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
title_fullStr DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
title_full_unstemmed DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
title_sort DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
author Azevedo, Ana P
author_facet Azevedo, Ana P
Silva, Susana N
de Lima, João P
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
author_role author
author2 Silva, Susana N
de Lima, João P
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Centre for Toxicogenomics and Human Health (ToxOmics)
RUN
dc.contributor.author.fl_str_mv Azevedo, Ana P
Silva, Susana N
de Lima, João P
Reichert, Alice
Lima, Fernando
Júnior, Esmeraldina
Rueff, José
dc.subject.por.fl_str_mv Philadelphia‑negative myeloproliferative neoplasms
genetic susceptibility
base excision repair genes polymorphisms
DNA repair
SDG 3 - Good Health and Well-being
topic Philadelphia‑negative myeloproliferative neoplasms
genetic susceptibility
base excision repair genes polymorphisms
DNA repair
SDG 3 - Good Health and Well-being
description The authors gratefully acknowledge all patients and controls who generously participated in the present study. Our appreciation and thanks are extended to laboratory technicians, Mrs. Luisa Manso Oliveira, Mrs. Silvia Morgado Amaro and Miss Ines Sousa, (Department of Clinical Pathology, Hospital de Sao Francisco Xavier, Centro Hospitalar de Lisboa Ocidental) for their expert technical assistance. The present study was supported by funding through the project no. UID/BIM/00009/2013 from the Science and Technology Foundation of Portugal, which also awarded a Post-Doctoral Research grant to S.N.S. (grant no. SFRH/BPD/80462/2011).
publishDate 2017
dc.date.none.fl_str_mv 2017-12-11T23:36:24Z
2017-06
2017-06-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/26649
url http://hdl.handle.net/10362/26649
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1792-1074
PURE: 2790623
https://doi.org/doi.org/10.3892/ol.2017.6065
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 10
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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instacron_str RCAAP
institution RCAAP
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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