2026-05-04T19:32:49Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/230102024-11-28T16:43:53Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16958col_20.500.12105_16966col_20.500.12105_16967col_20.500.12105_16987col_20.500.12105_16986
Repisalud
author
Cullell, Natalia
author
Carrera, Caty
author
Muino, Elena
author
Torres-Aguila, Nuria-Paz
author
Carcel-Marquez, Jara
author
Gonzalez-Sanchez, Jonathan
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Gallego-Fabrega, Cristina
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Molina, Jessica
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Besora, Sarah
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Sotoca, Javier
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Buongiorno, Maria-Teresa
author
Jimenez-Conde, Jordi
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Giralt-Steinhauer, Eva
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de Torres-Chacon, Reyes
author
Montaner, Joan
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Mancha, Fernando
author
Cabezas, Juan A
author
Marti-Fabregas, Joan
author
Prats-Sanchez, Luis
author
Camps-Renom, Pol
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Purroy, Francisco
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Cambray, Serafi
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Freijo Guerrero, Maria del Mar
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Vives-Bauza, Cristofol
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Tur Campos, Silvia
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Font, Maria-Angels
author
Lopez-Cancio, Elena
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Hernandez-Perez, Maria
author
Obach, Victor
author
Calleja, Ana
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Arenillas, Juan Francisco
author
Rodriguez-Yanez, Manuel
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Castillo, Jose
author
Sobrino, Tomas
author
Fernandez-Cadenas, Israel
author
Krupinski, Jerzy
2024-09-13T09:15:48Z
2024-09-13T09:15:48Z
2020-02-18
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
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.
eng
Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
research article