Evidence map›Paper›PMID 32071341›Full record

ArticleScientific reports2020

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

Natalia Cullell, Caty Carrera, Elena Muiño, Nuria-Paz Torres-Aguila, Jara Cárcel-Márquez, Jonathan González-Sánchez, Cristina Gallego-Fabrega, Jessica Molina, Sarah Besora, Javier Sotoca and 26 more

Open access · goldAbstract readMulticenter Study
In one paragraph

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Annals of medicine · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors at 15 institutions in 2 countries.

Natalia CullellNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.ORCID http://orcid.org/0000-0001-5118-1014
Caty CarreraStroke Pharmacogenomics and Genetics, Biomedical Research Institute Sant Pau, Barcelona, Spain.
Elena MuiñoStroke Pharmacogenomics and Genetics, Biomedical Research Institute Sant Pau, Barcelona, Spain.
Nuria-Paz Torres-AguilaStroke Pharmacogenomics and Genetics, Biomedical Research Institute Sant Pau, Barcelona, Spain.
Jara Cárcel-MárquezStroke Pharmacogenomics and Genetics, Biomedical Research Institute Sant Pau, Barcelona, Spain.
Jonathan González-SánchezNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Cristina Gallego-FabregaNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Jessica MolinaNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Sarah BesoraNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Javier SotocaNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Maria-Teresa BuongiornoNeurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Jordi Jiménez-CondeNeurology, Hospital del Mar Medical Research Institute, Barcelona, Spain.
Eva Giralt-SteinhauerNeurology, Hospital del Mar Medical Research Institute, Barcelona, Spain.
Reyes de Torres-ChacónDepartment of Neurology, Hospital Universitario Virgen Macarena, Seville, Spain.
Joan MontanerInstitute de Biomedicine of Seville, IBiS/Hospital Universitario Virgen del Rocío/CSIC/University of Seville & Department of Neurology, Hospital Universitario Virgen Macarena, Seville, Spain.
Fernando ManchaInstitute de Biomedicine of Seville, IBiS/Hospital Universitario Virgen del Rocío/CSIC/University of Seville & Department of Neurology, Hospital Universitario Virgen Macarena, Seville, Spain.ORCID http://orcid.org/0000-0003-0310-0894
Juan A CabezasInstitute de Biomedicine of Seville, IBiS/Hospital Universitario Virgen del Rocío/CSIC/University of Seville & Department of Neurology, Hospital Universitario Virgen Macarena, Seville, Spain.
Joan Martí-FàbregasNeurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.ORCID http://orcid.org/0000-0001-9229-8649
Luis Prats-SánchezNeurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Pol Camps-RenomNeurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.ORCID http://orcid.org/0000-0001-6587-6271
Francisco PurroyStroke Unit, Department of Neurology, Universitat de Lleida, Hospital Universitari Arnau de Vilanova de Lleida, Lleida, Spain.ORCID http://orcid.org/0000-0002-1808-5968
Serafi CambrayClinical Neurosciences Group, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain.
María Del Mar FreijoNeurology, Basurto Hospital, Bilbao, Spain.
Cristòfol Vives-BauzáNeurobiology Laboratory, Research Unit, Son Espases University Hospital, Illes Balears, Spain.
Silvia TurNeurology, Son Espases University Hospital, Illes Balears, Spain.
Maria-Àngels FontNeurology, Moisès Broggi Hospital, Barcelona, Spain.
Elena López-CancioStroke Unit, Germans Trias i Pujol Hospital, Barcelona, Spain.
Maria Hernandez-PerezStroke Unit, Germans Trias i Pujol Hospital, Barcelona, Spain.
Victor ObachNeurology, Hospital Clinic, Barcelona, Spain.
Ana CallejaDepartment of Neurology, University Clinical Hospital of Valladolid, Valladolid, Spain.
Juan ArenillasDepartment of Neurology, University Clinical Hospital of Valladolid, Valladolid, Spain.
Manuel Rodríguez-YáñezClinical Neurosciences Research Laboratory, Department of Neurology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital, Santiago, Spain.
José CastilloClinical Neurosciences Research Laboratory, Department of Neurology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital, Santiago, Spain.
Tomas SobrinoClinical Neurosciences Research Laboratory, Department of Neurology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital, Santiago, Spain.
Israel Fernández-Cádenas *Neurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Jerzy Krupinski *Neurology, Hospital Universitari MútuaTerrassa/Fundacio Docència i Recerca MútuaTerrassa, Terrassa, Spain. jkrupinski@mutuaterrassa.es.
Mútua Terrassa · ESHospital Universitario Virgen Macarena · ESHospital de Sant Pau · ESInstituto de Investigación Sanitaria de Santiago · ESHospital Del Mar · ESHospital Universitario Son Espases · ESManchester Metropolitan University · GBUniversidad de Valladolid · ESUniversitat de Lleida · ESHospital Clínic de Barcelona · ESHospital de Basurto · ESHospital de Sant Joan Despí Moisès Broggi · ESHospital Universitari Germans Trias i Pujol · ESHospital Universitario Central de Asturias · ESVall d'Hebron Institut de Recerca · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AcenocoumarolAnticoagulantsAgedAged, 80 and overCytochrome P-450 CYP2C9FemaleGenome-Wide Association StudyHumansMalePharmacogeneticsPolymorphism, Single NucleotideProspective StudiesSpainStrokeVitamin K Epoxide ReductasesAcenocoumarolAnticoagulantsCYP2C9 protein, humanCytochrome P-450 CYP2C9Vitamin K Epoxide ReductasesVKORC1 protein, human

Identifiers

PMID32071341
PMCPMC7028945
OpenAlexW3007737845

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.