Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain

Autor: Elena Muiño, Victor Obach, Ana Calleja, Elena López-Cancio, Reyes de Torres-Chacón, Jara Cárcel-Márquez, Joan Martí-Fàbregas, Serafí Cambray, Maria Del Mar Freijo, Jerzy Krupinski, Maria-Teresa Buongiorno, Israel Fernandez-Cadenas, Natalia Cullell, Joan Montaner, Sarah Besora, Jessica Molina, Manuel Rodríguez-Yáñez, Silvia Tur, Jonathan González-Sánchez, Cristina Gallego-Fabrega, María Hernández-Pérez, Eva Giralt-Steinhauer, Javier Sotoca, José Castillo, Nuria-Paz Torres-Aguila, Jordi Jimenez-Conde, Caty Carrera, Maria-Àngels Font, Juan Antonio Cabezas, Francisco Purroy, Fernando Mancha, Tomás Sobrino, Cristofol Vives-Bauza, Juan F. Arenillas, Luis Prats-Sánchez, Pol Camps-Renom
Přispěvatelé: University of St Andrews. School of Biology, International Stroke Genetics Consortium, Consorcio español de genética del ictus, Redes Temáticas de Investigación Cooperativa en Salud (España)
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
QH301 Biology
humanos
lcsh:Medicine
Genome-wide association study
Hemorràgia cerebral
030204 cardiovascular system & hematology
Genoma humà
farmacogenética
0302 clinical medicine
estudios prospectivos
Prospective Studies
lcsh:Science
Aged
80 and over
Acenocoumarol
anciano
Multidisciplinary
Maintenance dose
Anticoagulant
Stroke
Cohort
Female
VKORC1
RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
medicine.drug
medicine.medical_specialty
medicine.drug_class
NDAS
QH426 Genetics
Polymorphism
Single Nucleotide
Ictus
QH301
03 medical and health sciences
vitamina K epóxido reductasas
Internal medicine
Vitamin K Epoxide Reductases
medicine
Humans
cardiovascular diseases
accidente cerebrovascular
QH426
CYP2C9
Cytochrome P-450 CYP2C9
Aged
business.industry
lcsh:R
Anticoagulants
030104 developmental biology
Spain
Pharmacogenetics
estudio de asociación genómica completa
RC0321
Anticoagulants (Medicina)
lcsh:Q
acenocumarol
anticoagulantes
business
Genome-Wide Association Study
Zdroj: Repositorio Abierto de la UdL
Universitad de Lleida
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
DOI: 10.1038/s41598-020-59641-9
Popis: 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
We would like to thank the International Stroke Genetics Consortium, the Spanish Stroke Genetics Consortium, and the RETICS Network INVICTUS plus (RD16/0019/0001, RD16/0019/0002, RD16/0019/0007, RD16/0019/0010, and RD16/0019/0011, RD16/0019/0017, RD16/0019/0019 and RD16/0019/0021).
Databáze: OpenAIRE
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