Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development

[Background]: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated...

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Autores: Bueno-Martínez, Elena, Lara-Almunia, M., Rodríguez-Arias, C., Otero-Rodríguez, A., Garfias-Arjona, S., González-Sarmiento, Rogelio
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/283037
Acesso em linha:http://hdl.handle.net/10261/283037
Access Level:acceso abierto
Palavra-chave:Autophagy
Glioblastoma
Polymorphisms
ATG2B
ATG10
ATG16L1
ATG5
NOD2
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spelling Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma developmentBueno-Martínez, ElenaLara-Almunia, M.Rodríguez-Arias, C.Otero-Rodríguez, A.Garfias-Arjona, S.González-Sarmiento, RogelioAutophagyGlioblastomaPolymorphismsATG2BATG10ATG16L1ATG5NOD2[Background]: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors. [Methods]: Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility. [Results]: Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor. [Conclusions]: This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.This research was funded by the health research program of the “Instituto de Salud Carlos III” (FIS PI13/01741). E. Bueno-Martínez was supported by a predoctoral research FPU grant from the Ministerio de Educación, Cultura y Deporte (AP2010-3728).BioMed CentralInstituto de Salud Carlos IIIMinisterio de Educación, Cultura y Deporte (España)Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2022202220222022info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/283037reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésBueno-Martínez, Elena; Lara-Almunia, M.; Rodríguez-Arias, C.; Otero-Rodríguez, A.; Garfias-Arjona, S.; González-Sarmiento; 2022; Additional file 1 of Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development [Dataset]; Figshare; https://doi.org/10.6084/m9.figshare.19128628.v1Bueno-Martínez, Elena; Lara-Almunia, M.; Rodríguez-Arias, C.; Otero-Rodríguez, A.; Garfias-Arjona, S.; González-Sarmiento; 2022; Additional file 2 of Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development [Dataset]; Figshare; https://doi.org/10.6084/m9.figshare.19128631.v1http://dx.doi.org/10.1186/s12885-022-09214-ySíinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2830372026-05-22T06:33:51Z
dc.title.none.fl_str_mv Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
title Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
spellingShingle Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
Bueno-Martínez, Elena
Autophagy
Glioblastoma
Polymorphisms
ATG2B
ATG10
ATG16L1
ATG5
NOD2
title_short Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
title_full Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
title_fullStr Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
title_full_unstemmed Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
title_sort Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development
dc.creator.none.fl_str_mv Bueno-Martínez, Elena
Lara-Almunia, M.
Rodríguez-Arias, C.
Otero-Rodríguez, A.
Garfias-Arjona, S.
González-Sarmiento, Rogelio
author Bueno-Martínez, Elena
author_facet Bueno-Martínez, Elena
Lara-Almunia, M.
Rodríguez-Arias, C.
Otero-Rodríguez, A.
Garfias-Arjona, S.
González-Sarmiento, Rogelio
author_role author
author2 Lara-Almunia, M.
Rodríguez-Arias, C.
Otero-Rodríguez, A.
Garfias-Arjona, S.
González-Sarmiento, Rogelio
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
Ministerio de Educación, Cultura y Deporte (España)
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Autophagy
Glioblastoma
Polymorphisms
ATG2B
ATG10
ATG16L1
ATG5
NOD2
topic Autophagy
Glioblastoma
Polymorphisms
ATG2B
ATG10
ATG16L1
ATG5
NOD2
description [Background]: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors. [Methods]: Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility. [Results]: Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor. [Conclusions]: This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/283037
url http://hdl.handle.net/10261/283037
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Bueno-Martínez, Elena; Lara-Almunia, M.; Rodríguez-Arias, C.; Otero-Rodríguez, A.; Garfias-Arjona, S.; González-Sarmiento; 2022; Additional file 1 of Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development [Dataset]; Figshare; https://doi.org/10.6084/m9.figshare.19128628.v1
Bueno-Martínez, Elena; Lara-Almunia, M.; Rodríguez-Arias, C.; Otero-Rodríguez, A.; Garfias-Arjona, S.; González-Sarmiento; 2022; Additional file 2 of Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development [Dataset]; Figshare; https://doi.org/10.6084/m9.figshare.19128631.v1
http://dx.doi.org/10.1186/s12885-022-09214-y
Sí
dc.rights.none.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 BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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