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00925njm 22002777a 4500 dc Cullell, Natalia author Carrera, Caty author Muino, Elena author Torres-Aguila, Nuria-Paz author Carcel-Marquez, Jara author Gonzalez-Sanchez, Jonathan author Gallego-Fabrega, Cristina author Molina, Jessica author Besora, Sarah author Sotoca, Javier author Buongiorno, Maria-Teresa author Jimenez-Conde, Jordi author Giralt-Steinhauer, Eva author de Torres-Chacon, Reyes author Montaner, Joan author Mancha, Fernando author Cabezas, Juan A author Marti-Fabregas, Joan author Prats-Sanchez, Luis author Camps-Renom, Pol author Purroy, Francisco author Cambray, Serafi author Freijo Guerrero, Maria del Mar author Vives-Bauza, Cristofol author Tur Campos, Silvia author Font, Maria-Angels author Lopez-Cancio, Elena author Hernandez-Perez, Maria author Obach, Victor author Calleja, Ana author Arenillas, Juan Francisco author Rodriguez-Yanez, Manuel author Castillo, Jose author Sobrino, Tomas author Fernandez-Cadenas, Israel author Krupinski, Jerzy author 2020-02-18 Acenocoumarol 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. Cullell N, Carrera C, Muino E, Torres-Aguila NP, Carcel-Marquez J, Gonzalez-Sanchez J, et al. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain. Sci Rep. 2020 Feb 18;10(1):2806. 10.1038/s41598-020-59641-9 2045-2322 Scientific Reports http://hdl.handle.net/20.500.13003/11731 32071341 L631002053 2-s2.0-85079587141 https://hdl.handle.net/20.500.12105/23010 560398000011 Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain