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dc.contributor.authorAlegría Lertxundi, Iker
dc.contributor.authorAguirre Gómez, Carmelo
dc.contributor.authorBujanda Fernández de Pierola, Luis
dc.contributor.authorFernández Pablos, Francisco Javier
dc.contributor.authorPolo, Francisco
dc.contributor.authorOrdovás, José María
dc.contributor.authorEtxezarraga Zuluaga, María Carmen
dc.contributor.authorZabalza Estévez, Ignacio
dc.contributor.authorLarzabal, Mikel
dc.contributor.authorPortillo, Isabel
dc.contributor.authorMartínez de Pancorbo Gómez, María de los Angeles
dc.contributor.authorPalencia Madrid, Leire
dc.contributor.authorRocandio Pablo, Ana María
dc.contributor.authorArroyo Izaga, Marta
dc.date.accessioned2020-06-11T10:42:14Z
dc.date.available2020-06-11T10:42:14Z
dc.date.issued2019-12-10
dc.identifier.citationPlos One 14(12) : (2019) // Article ID e0225779es_ES
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10810/43903
dc.description.abstractGiven the significant population diversity in genetic variation, we aimed to investigate whether single nucleotide polymorphisms (SNPs) previously identified in studies of colorectal cancer (CRC) susceptibility were also relevant to the population of the Basque Country (North of Spain). We genotyped 230 CRC cases and 230 healthy controls for 48 previously reported CRC-susceptibility SNPs. Only the rs6687758 in DUPS10 exhibited a statistically significant association with CRC risk based on the crude analysis. The rs6687758 AG genotype conferred about 2.13-fold increased risk for CRC compared to the AA genotype. Moreover, we found significant associations in cases between smoking status, physical activity, and the rs6687758 SNP. The results of a Genetic Risk Score (GRS) showed that the risk alleles were more frequent in cases than controls and the score was associated with CRC in crude analysis. In conclusion, we have confirmed a CRC susceptibility locus and the existence of associations between modifiable factors and the rs6687758 SNP; moreover, the GRS was associated with CRC. However, further experimental validations are needed to establish the role of this SNP, the function of the gene identified, as well as the contribution of the interaction between environmental factors and this locusto the risk of CRC.es_ES
dc.description.sponsorshipThis work was supported by two projects (from the Department of Health and Consumer Affairs, Basque Government 2011111153; and Saiotek, Basque Government S-PE12UN058), by a pre-doctoral grant from the Basque Government (PRE_2016_2_0046), by the CIBERehd and by the U.S. Department of Agriculture-Agricultural Research Service (ARS), under agreement. 581950-4-003. Neither Basque Government nor U.S. Department of Agriculture-Agricultural Research Service (ARS) had a role in the design, analysis or writing of this article. CIBERehd is funded by the Instituto de Salud Carlos III.es_ES
dc.language.isoenges_ES
dc.publisherPublic Library Sciencees_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subject:genome-wide associationes_ES
dc.subjectgenetic susceptibilityes_ES
dc.subjectlocies_ES
dc.subjectriskes_ES
dc.subjectexpressiones_ES
dc.subjectidentificationes_ES
dc.subjectmetaanalysises_ES
dc.subjectphosphatasees_ES
dc.subjectpredictiones_ES
dc.subjectvariantses_ES
dc.titleSingle nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque populationes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holder2019 Alegria-Lertxundi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits un restricted use, distribution, and reproduction in any medium ,provided the original author and source are credited.es_ES
dc.rights.holderAtribución 3.0 España*
dc.relation.publisherversionhttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0225779es_ES
dc.identifier.doi10.1371/journal.pone.0225779
dc.departamentoesEspecialidades médico-quirúrgicases_ES
dc.departamentoesFarmacia y ciencias de los alimentoses_ES
dc.departamentoeuFarmazia eta elikagaien zientziakes_ES
dc.departamentoeuMedikuntza eta kirurgia espezialitateakes_ES


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2019 Alegria-Lertxundi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits un restricted use, distribution, and reproduction in any medium ,provided the original author and source are  credited.
Except where otherwise noted, this item's license is described as 2019 Alegria-Lertxundi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits un restricted use, distribution, and reproduction in any medium ,provided the original author and source are credited.