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dc.contributor.authorCullell, Natalia
dc.contributor.authorCarrera, Caty
dc.contributor.authorMuiño, Elena
dc.contributor.authorTorres-Aguila, Nuria-Paz
dc.contributor.authorCárcel-Márquez, Jara
dc.contributor.authorGonzález-Sánchez, Jonathan
dc.contributor.authorGallego-Fabrega, Cristina
dc.contributor.authorMolina, Jessica
dc.contributor.authorBesora, Sarah
dc.contributor.authorSotoca, Javier
dc.contributor.authorBuongiorno, Maria-Teresa
dc.contributor.authorJiménez-Conde, Jordi
dc.contributor.authorGiralt-Steinhauer, Eva
dc.contributor.authorde Torres-Chacón, Reyes
dc.contributor.authorMontaner, Joan
dc.contributor.authorMancha, Fernando
dc.contributor.authorCabezas, Juan A
dc.contributor.authorMartí-Fàbregas, Joan
dc.contributor.authorPrats-Sánchez, Luis
dc.contributor.authorCamps-Renom, Pol
dc.contributor.authorPurroy, Francisco
dc.contributor.authorCambray, Serafi
dc.contributor.authorDel Mar Freijo, María
dc.contributor.authorVives-Bauzá, Cristòfol
dc.contributor.authorTur, Silvia
dc.contributor.authorFont, Maria-Àngels
dc.contributor.authorLópez-Cancio, Elena
dc.contributor.authorHernandez-Perez, Maria
dc.contributor.authorObach, Victor
dc.contributor.authorCalleja, Ana
dc.contributor.authorArenillas, Juan
dc.contributor.authorRodríguez-Yáñez, Manuel
dc.contributor.authorCastillo, José
dc.contributor.authorSobrino, Tomas
dc.contributor.authorFernández-Cádenas, Israel
dc.contributor.authorKrupinski, Jerzy
dc.identifier.citationCullell , N , Carrera , C , Muiño , E , Torres-Aguila , N-P , Cárcel-Márquez , J , González-Sánchez , J , Gallego-Fabrega , C , Molina , J , Besora , S , Sotoca , J , Buongiorno , M-T , Jiménez-Conde , J , Giralt-Steinhauer , E , de Torres-Chacón , R , Montaner , J , Mancha , F , Cabezas , J A , Martí-Fàbregas , J , Prats-Sánchez , L , Camps-Renom , P , Purroy , F , Cambray , S , Del Mar Freijo , M , Vives-Bauzá , C , Tur , S , Font , M-À , López-Cancio , E , Hernandez-Perez , M , Obach , V , Calleja , A , Arenillas , J , Rodríguez-Yáñez , M , Castillo , J , Sobrino , T , Fernández-Cádenas , I & Krupinski , J 2020 , ' Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain ' , Scientific Reports , vol. 10 , 2806 .
dc.identifier.otherPURE: 269531870
dc.identifier.otherPURE UUID: ab177f85-f7da-48b8-9ca7-6df6e0aa39d2
dc.identifier.otherPubMed: 32071341
dc.identifier.otherPubMedCentral: PMC7028945
dc.identifier.otherScopus: 85079587141
dc.identifier.otherORCID: /0000-0002-9502-9310/work/78892083
dc.description.abstractAcenocoumarol is an oral anticoagulant with significant interindividual dose variations. Variants in CYP2C9 and VKORC1 have been associated with acenocoumarol maintenance dose. We analysed whether any of the 49 polymorphisms in CYP2C9 and VKORC1 previously associated with acenocoumarol maintenance dose in a Genome-Wide Association study (GWAs) in Dutch population are associated with stroke recurrence, intracranial haemorrhage (ICH) and acenocoumarol maintenance dose in a Spanish population. We performed a GWAs using Human Core Exome-chip (Illumina) in 78 patients stroke patients treated with acenocoumarol for secondary prevention enrolled as part of the prospective investigator-initiated study (IIS) SEDMAN Study. Patients were followed-up a median of 12.8 months. Three and eight patients had recurrent stroke and ICH events, respectively. We found 14 of the 49 published variants associated with acenocoumarol maintenance dose (p < 0.05). Six polymorphisms were associated with stroke recurrence and four variants with ICH (p < 0.05). In conclusion, variants in VKORC1 and CYP2C9 are associated with acenocoumarol maintenance dose, stroke recurrence and ICH in a Spanish cohort. These results highlight the relevance of studying pharmacogenetics associated with efficacy and safety of anticoagulant drugs and justify studies with larger sample size and different ethnic populations.
dc.relation.ispartofScientific Reportsen
dc.rightsCopyright © The Author(s) 2020. 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, visit
dc.subjectQH301 Biologyen
dc.subjectQH426 Geneticsen
dc.subjectRC0321 Neuroscience. Biological psychiatry. Neuropsychiatryen
dc.titleGenome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spainen
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews.School of Biologyen
dc.description.statusPeer revieweden

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