Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/11731
Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
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ISSN: 2045-2322
WOS ID: 000560398000011
Scopus EID: 2-s2.0-85079587141
PMID: 32071341
Embase PUI: L631002053
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Cullell, Natalia; Carrera, Caty; Muino, Elena; Torres-Aguila, Nuria-Paz; Carcel-Marquez, Jara; Gonzalez-Sanchez, Jonathan; Gallego-Fabrega, Cristina; Molina, Jessica; Besora, Sarah; Sotoca, Javier; Buongiorno, Maria-Teresa; Jimenez-Conde, Jordi; Giralt-Steinhauer, Eva; de Torres-Chacon, Reyes; Montaner, Joan; Mancha, Fernando; Cabezas, Juan A.; Marti-Fabregas, Joan; Prats-Sanchez, Luis; Camps-Renom, Pol; Purroy, Francisco; Cambray, Serafi; Freijo, Maria del Mar; Vives-Bauz, Cristofol; Tur, Silvia; Font, Maria-Angels; Lopez-Cancio, Elena; Hernandez-Perez, Maria; Obach, Victor; Calleja, Ana; Arenillas, Juan; Rodriguez-Yanez, Manuel; Castillo, Jose; Sobrino, Tomas; Fernandez-Cadenas, Israel; Krupinski, JerzyPublication date
2020-02-18Document type
research articleCitation
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.Abstract
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.
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https://dx.doi.org/10.1038/s41598-020-59641-9MeSH
Aged, 80 and overAged
Spain
Humans
Acenocoumarol
Stroke
Polymorphism, Single Nucleotide
Cytochrome P-450 CYP2C9
Pharmacogenetics
Vitamin K Epoxide Reductases
Male
Prospective Studies
Female
Anticoagulants
Genome-Wide Association Study
DeCS
Accidente CerebrovascularPolimorfismo de Nucleótido Simple
Vitamina K Epóxido Reductasas
Femenino
Masculino
Acenocumarol
Estudio de Asociación del Genoma Completo
Citocromo P-450 CYP2C9
Humanos
Estudios Prospectivos
Anciano
Farmacogenética
Anciano de 80 o más Años
Anticoagulantes
España
This item appears in following Docusalut collections
Hospital Universitario Son Espases - HUSE > Comunicación científicaInstituto de Investigación Sanitaria Islas Baleares - IDISBA > Comunicación científica