Analysis of DNA repair gene polymorphisms in glioblastoma

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dc.contributor.authorRodriguez Hernandez, Irene
dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.authorSantos Briz, Angel
dc.contributor.authorGarcia, Juan Luis
dc.contributor.authorGomez Moreta, Juan Antonio
dc.contributor.authorCruz, Juan Jesus
dc.contributor.authorGonzalez Sarmiento, Rogelio
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2020-07-07T16:30:00Z
dc.date.available2020-07-07T16:30:00Z
dc.date.issued2014
dc.description.abstractenglishBackground: Glioblastoma is the most common and aggressive primary brain tumor in adults. Despite several factors such as ionizing radiation exposure or rare genetic syndromes have been associated with the development of glioblastoma, no underlying cause has been identified for the majority of cases. We thus aimed to investigate the role of DNA repair polymorphisms in modulating glioblastoma risk. Methods: Genotypic and allelic frequencies of seven common polymorphisms in DNA repair genes involved in nucleotide excision repair (ERCC1 rs11615, ERCC2 rs13181, ERCC6 rs4253079), base excision repair (APEX1 rs1130409, XRCC1 rs25487), double-strand break repair (XRCC3 rs861539) and mismatch repair (MLH1 rs1800734) pathways were analyzed in 115 glioblastoma patients and 200 healthy controls. Haplotype analysis was also performed for ERCC1 rs11615 and ERCC2 rs13181 polymorphisms, located on the same chromosomal region (19q13.32). Results: Our results indicated that carriers of the ERCC2 Gln/Gln genotype were associated with a lower glioblastoma risk (OR = 0.32, 95% CI 0.12–0.89; P = 0.028), whereas carriers of the MLH1 AA genotype were associated with an increased risk of glioblastoma (OR = 3.14, 95% CI 1.09–9.06; P = 0.034). Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of ERCC1 rs11615 polymorphism was significantly associated with a protective effect of developing glioblastoma (OR = 0.34, 95% CI 0.16–0.71; P = 0.004). Conclusions: These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.gene.2013.11.077
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn0378-1119
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlhttps://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/3345
dc.language.isoeng
dc.publisherElsevierspa
dc.publisher.journalGenespa
dc.relation.ispartofseriesGene, 0378-1119, Vol. 536, Nro. 1, 2014, p. 79-83spa
dc.relation.urihttps://www.sciencedirect.com/science/article/abs/pii/S037811191301603X?via%3Dihub
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2013
dc.rights.localAcceso abiertospa
dc.subject.decsGlioblastomaspa
dc.subject.decsPolimorfismo genéticospa
dc.subject.decsÁcido desoxirribonucleicospa
dc.subject.keywordsGlioblastomaspa
dc.subject.keywordsPolymorphismspa
dc.subject.keywordsRepairspa
dc.subject.keywordsERCC1spa
dc.subject.keywordsMLH1spa
dc.titleAnalysis of DNA repair gene polymorphisms in glioblastomaspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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