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dc.contributor.authorSantos, Alonso
dc.contributor.authorRibas, Gloria
dc.contributor.authorIbarrola-Villava, Maider
dc.contributor.authorPeña Chilet, María
dc.contributor.authorMartinez-Cadenas, Conrado
dc.contributor.authorGardeazabal, Jesús
dc.contributor.authorCareaga, Jesús María
dc.contributor.authorPérez-Yarza, Gorka
dc.contributor.authorSánchez-Díez, Ana
dc.contributor.authorRatón-Nieto, Juan Antonio
dc.contributor.authorArroyo-Berdgo, Yoana
dc.contributor.authorCarretero, Gregorio
dc.contributor.authorMartín González, Manuel
dc.contributor.authorGómez Fernández, Cristina
dc.contributor.authorNagore, Eduardo
dc.contributor.authorAsumendi, Aintzane
dc.contributor.authorBoyano, Dolores
dc.date.accessioned2015-06-11T18:16:20Z
dc.date.available2015-06-11T18:16:20Z
dc.date.issued2014
dc.identifier.citationArroyo-Berdugo Y, Alonso S, Ribas G, Ibarrola-Villava M, Peña-Chilet M, Martínez-Cadenas C, et al. (2014) Involvement of ANXA5 and ILKAP in Susceptibility to Malignant Melanoma. PLoS ONE 9(4): e95522. doi:10.1371/journal.pone.0095522ca_CA
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10234/123263
dc.description.abstractSingle nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which may be responsible for the different individual susceptibility to diseases and/or response to drugs, among other phenotypic traits. Several low penetrance susceptibility genes associated with malignant melanoma (MM) have been described, including genes related to pigmentation, DNA damage repair and oxidative stress pathways. In the present work, we conducted a candidate gene association study based on proteins and genes whose expression we had detected altered in melanoma cell lines as compared to normal melanocytes. The result was the selection of 88 loci and 384 SNPs, of which 314 fulfilled our quality criteria for a case-control association study. The SNP rs6854854 in ANXA5 was statistically significant after conservative Bonferroni correction when 464 melanoma patients and 400 controls were analyzed in a discovery Phase I. However, this finding could not be replicated in the validation phase, perhaps because the minor allele frequency of SNP rs6854854 varies depending on the geographical region considered. Additionally, a second SNP (rs6431588) located on ILKAP was found to be associated with melanoma after considering a combined set of 1,883 MM cases and 1,358 disease-free controls. The OR was 1.29 (95% CI 1.12–1.48; p-value = 4×10−4). Both SNPs, rs6854854 in ANXA5 and rs6431588 in ILKAP, show population structure, which, assuming that the Spanish population is not significantly structured, suggests a role of these loci on a specific genetic adaptation to different environmental conditions. Furthermore, the biological relevance of these genes in MM is supported by in vitro experiments, which show a decrease in the transcription levels of ANXA5 and ILKAP in melanoma cells compared to normal melanocytesca_CA
dc.format.extent15 p.ca_CA
dc.format.mimetypeapplication/pdfca_CA
dc.language.isoengca_CA
dc.publisherPublic Library of Scienceca_CA
dc.relation.isPartOfPLoS ONE, April 2014, Volume 9, Issue 4, e95522ca_CA
dc.rights© 2014 Arroyo-Berdugo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are creditedca_CA
dc.rightsAttribution 4.0 Spain*
dc.rights.urihttp://creativecommons.org/licenses/by-sa/4.0/*
dc.titleInvolvement of ANXA5 and ILKAP in Susceptibility to Malignant Melanomaca_CA
dc.typeinfo:eu-repo/semantics/articleca_CA
dc.identifier.doihttp://dx.doi.org/10.1371/journal.pone.0095522
dc.rights.accessRightsinfo:eu-repo/semantics/openAccessca_CA
dc.relation.publisherVersionhttp://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0095522&representation=PDFca_CA
dc.type.versioninfo:eu-repo/semantics/publishedVersion


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© 2014 Arroyo-Berdugo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Excepto si se señala otra cosa, la licencia del ítem se describe como: © 2014 Arroyo-Berdugo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited