Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium

Detalhes bibliográficos
Autor(a) principal: Sánchez-Maldonado, J. M.
Data de Publicação: 2020
Outros Autores: Campa, D., Springer, J., Badiola, J., Niazi, Y., Moñiz-Díez, A., Hernández-Mohedo, F., González-Sierra, P., Ter Horst, R., Macauda, A., Brezina, S., Cunha, C., Lackner, M., López-Nevot, M. A., Fianchi, L., Pagano, L., López-Fernández, E., Potenza, L., Luppi, M., Moratalla, L., Rodríguez-Sevilla, J. J., Fonseca, João Eurico, Tormo, M., Solano, C., Clavero, E., Romero, A., Li, Y., Lass-Flörl, C., Einsele, H., Vazquez, L., Loeffler, J., Hemminki, K., Carvalho, A., Netea, M. G., Gsur, A., Dumontet, C., Canzian, F., Försti, A., Jurado, M., Sainz, J.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/46302
Resumo: © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visithttp://creativecommons.org/licenses/by/4.0/.
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spelling Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visithttp://creativecommons.org/licenses/by/4.0/.The purpose of this study was to conduct a two-stage case control association study including 654 acute myeloid leukaemia (AML) patients and 3477 controls ascertained through the NuCLEAR consortium to evaluate the effect of 27 immune-related single nucleotide polymorphisms (SNPs) on AML risk. In a pooled analysis of cohort studies, we found that carriers of the IL13rs1295686A/A genotype had an increased risk of AML (PCorr = 0.0144) whereas carriers of the VEGFArs25648T allele had a decreased risk of developing the disease (PCorr = 0.00086). In addition, we found an association of the IL8rs2227307 SNP with a decreased risk of developing AML that remained marginally significant after multiple testing (PCorr = 0.072). Functional experiments suggested that the effect of the IL13rs1295686 SNP on AML risk might be explained by its role in regulating IL1Ra secretion that modulates AML blast proliferation. Likewise, the protective effect of the IL8rs2227307 SNP might be mediated by TLR2-mediated immune responses that affect AML blast viability, proliferation and chemorresistance. Despite the potential interest of these results, additional functional studies are still warranted to unravel the mechanisms by which these variants modulate the risk of AML. These findings suggested that IL13, VEGFA and IL8 SNPs play a role in modulating AML risk.This study was supported by grants PI12/02688 and PI17/02276 from Fondo de Investigaciones Sanitarias (Instituto de Salud Carlos III, Madrid, Spain), the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER) (NORTE-01-0145-FEDER-000013), and by Fundação para a Ciência e Tecnologia (FCT) (CEECIND/04601/2017 to C.C, and CEECIND/03628/2017 to A.C.). This study was also supported by Astellas Pharma Inc. and by a donation of Consuelo González Moreno, an acute myeloid leukemia survivor.Springer NatureRepositório da Universidade de LisboaSánchez-Maldonado, J. M.Campa, D.Springer, J.Badiola, J.Niazi, Y.Moñiz-Díez, A.Hernández-Mohedo, F.González-Sierra, P.Ter Horst, R.Macauda, A.Brezina, S.Cunha, C.Lackner, M.López-Nevot, M. A.Fianchi, L.Pagano, L.López-Fernández, E.Potenza, L.Luppi, M.Moratalla, L.Rodríguez-Sevilla, J. J.Fonseca, João EuricoTormo, M.Solano, C.Clavero, E.Romero, A.Li, Y.Lass-Flörl, C.Einsele, H.Vazquez, L.Loeffler, J.Hemminki, K.Carvalho, A.Netea, M. G.Gsur, A.Dumontet, C.Canzian, F.Försti, A.Jurado, M.Sainz, J.2021-02-12T16:45:29Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/46302engBlood Cancer J. 2020 Jul 16;10(7):75 Springer Nature10.1038/s41408-020-00341-y2044-5385info: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:RCAAP2023-11-08T16:48:33Zoai:repositorio.ul.pt:10451/46302Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:58:32.256569Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
title Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
spellingShingle Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
Sánchez-Maldonado, J. M.
title_short Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
title_full Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
title_fullStr Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
title_full_unstemmed Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
title_sort Host immune genetic variations influence the risk of developing acute myeloid leukaemia : results from the NuCLEAR consortium
author Sánchez-Maldonado, J. M.
author_facet Sánchez-Maldonado, J. M.
Campa, D.
Springer, J.
Badiola, J.
Niazi, Y.
Moñiz-Díez, A.
Hernández-Mohedo, F.
González-Sierra, P.
Ter Horst, R.
Macauda, A.
Brezina, S.
Cunha, C.
Lackner, M.
López-Nevot, M. A.
Fianchi, L.
Pagano, L.
López-Fernández, E.
Potenza, L.
Luppi, M.
Moratalla, L.
Rodríguez-Sevilla, J. J.
Fonseca, João Eurico
Tormo, M.
Solano, C.
Clavero, E.
Romero, A.
Li, Y.
Lass-Flörl, C.
Einsele, H.
Vazquez, L.
Loeffler, J.
Hemminki, K.
Carvalho, A.
Netea, M. G.
Gsur, A.
Dumontet, C.
Canzian, F.
Försti, A.
Jurado, M.
Sainz, J.
author_role author
author2 Campa, D.
Springer, J.
Badiola, J.
Niazi, Y.
Moñiz-Díez, A.
Hernández-Mohedo, F.
González-Sierra, P.
Ter Horst, R.
Macauda, A.
Brezina, S.
Cunha, C.
Lackner, M.
López-Nevot, M. A.
Fianchi, L.
Pagano, L.
López-Fernández, E.
Potenza, L.
Luppi, M.
Moratalla, L.
Rodríguez-Sevilla, J. J.
Fonseca, João Eurico
Tormo, M.
Solano, C.
Clavero, E.
Romero, A.
Li, Y.
Lass-Flörl, C.
Einsele, H.
Vazquez, L.
Loeffler, J.
Hemminki, K.
Carvalho, A.
Netea, M. G.
Gsur, A.
Dumontet, C.
Canzian, F.
Försti, A.
Jurado, M.
Sainz, J.
author2_role author
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author
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author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
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dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Sánchez-Maldonado, J. M.
Campa, D.
Springer, J.
Badiola, J.
Niazi, Y.
Moñiz-Díez, A.
Hernández-Mohedo, F.
González-Sierra, P.
Ter Horst, R.
Macauda, A.
Brezina, S.
Cunha, C.
Lackner, M.
López-Nevot, M. A.
Fianchi, L.
Pagano, L.
López-Fernández, E.
Potenza, L.
Luppi, M.
Moratalla, L.
Rodríguez-Sevilla, J. J.
Fonseca, João Eurico
Tormo, M.
Solano, C.
Clavero, E.
Romero, A.
Li, Y.
Lass-Flörl, C.
Einsele, H.
Vazquez, L.
Loeffler, J.
Hemminki, K.
Carvalho, A.
Netea, M. G.
Gsur, A.
Dumontet, C.
Canzian, F.
Försti, A.
Jurado, M.
Sainz, J.
description © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visithttp://creativecommons.org/licenses/by/4.0/.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
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dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.relation.none.fl_str_mv Blood Cancer J. 2020 Jul 16;10(7):75 Springer Nature
10.1038/s41408-020-00341-y
2044-5385
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