GWAS hemorrhagic transformation parenchymal hematoma single nucleotide variants

Journal

Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588

Informations de publication

Date de publication:
16 Jul 2021
Historique:
received: 07 06 2021
revised: 05 07 2021
accepted: 14 07 2021
entrez: 24 7 2021
pubmed: 25 7 2021
medline: 25 7 2021
Statut: epublish

Résumé

Stroke is one of the most common causes of death and disability. Reperfusion therapies are the only treatment available during the acute phase of stroke. Due to recent clinical trials, these therapies may increase their frequency of use by extending the time-window administration, which may lead to an increase in complications such as hemorrhagic transformation, with parenchymal hematoma (PH) being the more severe subtype, associated with higher mortality and disability rates. Our aim was to find genetic risk factors associated with PH, as that could provide molecular targets/pathways for their prevention/treatment and study its genetic correlations to find traits sharing genetic background. We performed a GWAS and meta-analysis, following standard quality controls and association analysis (fastGWAS), adjusting age, NIHSS, and principal components. FUMA was used to annotate, prioritize, visualize, and interpret the meta-analysis results. The total number of patients in the meta-analysis was 2034 (216 cases and 1818 controls). We found rs79770152 having a genome-wide significant association (beta 0.09,

Identifiants

pubmed: 34300314
pii: jcm10143137
doi: 10.3390/jcm10143137
pmc: PMC8305811
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Instituto de Salud Carlos III
ID : CM18/00198
Organisme : Agència de Gestió d'Ajuts Universitaris i de Recerca
ID : 2020FI_B1 00157
Organisme : European Social Fund
ID : 2020FI_B1 00157
Organisme : Instituto de Salud Carlos III
ID : CD20/00043
Organisme : European Regional Development Fund
ID : CD20/00043
Organisme : Instituto de Salud Carlos III
ID : FI19/00309
Organisme : Instituto de Salud Carlos III
ID : CP12/03298
Organisme : Instituto de Salud Carlos III
ID : CPII17/00027
Organisme : Instituto de Salud Carlos III
ID : CPII19/00020

Références

Brain Behav. 2019 Sep;9(9):e01382
pubmed: 31429525
N Engl J Med. 2018 Feb 22;378(8):708-718
pubmed: 29364767
Nat Genet. 2012 Sep;44(9):981-90
pubmed: 22885922
Am J Hum Genet. 2014 Apr 3;94(4):511-21
pubmed: 24656865
Neurology. 2019 Feb 19;92(8):e749-e757
pubmed: 30659137
Nat Commun. 2020 Jul 14;11(1):3512
pubmed: 32665545
J Neurol. 2008 Jul;255(7):1012-7
pubmed: 18712428
Brain. 2019 Oct 1;142(10):3176-3189
pubmed: 31430377
Brain Res Brain Res Rev. 1998 Nov;28(1-2):1-8
pubmed: 9795099
Sci Rep. 2020 Mar 24;10(1):5319
pubmed: 32210323
Sci Rep. 2016 Sep 01;6:32475
pubmed: 27582018
Nat Genet. 2019 Dec;51(12):1749-1755
pubmed: 31768069
Nat Genet. 2018 Apr;50(4):524-537
pubmed: 29531354
Am J Epidemiol. 2019 Jun 1;188(6):1033-1054
pubmed: 30698716
J Stroke Cerebrovasc Dis. 2014 Apr;23(4):649-54
pubmed: 23834850
Circ Res. 2019 Jan 4;124(1):114-120
pubmed: 30582445
N Engl J Med. 2018 Aug 16;379(7):611-622
pubmed: 29766770
Circulation. 2003 Feb 4;107(4):598-603
pubmed: 12566373
Aust N Z J Public Health. 2001 Oct;25(5):464-9
pubmed: 11688629
J Leukoc Biol. 2008 Jul;84(1):207-14
pubmed: 18390930
Nat Genet. 2013 Nov;45(11):1274-1283
pubmed: 24097068
Ann Neurol. 2012 Nov;72(5):716-29
pubmed: 23280790
Ann Neurol. 2019 Apr;85(4):574-581
pubmed: 30761582
Stroke. 1999 Nov;30(11):2280-4
pubmed: 10548658
Neurology. 2019 Feb 12;92(7):e630-e638
pubmed: 30674591
Circ Res. 2017 Feb 3;120(3):439-448
pubmed: 28154096
Neurology. 2019 Aug 27;93(9):e851-e863
pubmed: 31366724
Stroke. 2017 May;48(5):1147-1153
pubmed: 28411264
Am J Hum Genet. 2017 Jan 5;100(1):40-50
pubmed: 27989323
Nat Commun. 2017 Nov 28;8(1):1826
pubmed: 29184056
Bioinformatics. 2010 Sep 1;26(17):2190-1
pubmed: 20616382
Eur J Hum Genet. 2009 Oct;17(10):1287-93
pubmed: 19319159
Cell. 2020 Sep 3;182(5):1198-1213.e14
pubmed: 32888493
N Engl J Med. 2018 Jan 4;378(1):11-21
pubmed: 29129157
Neurobiol Aging. 2020 Sep;93:61-68
pubmed: 32450446
Neurology. 2011 May 3;76(18):1575-80
pubmed: 21451151
Circ Res. 2021 Jan 8;128(1):62-75
pubmed: 33070717
Brain. 2021 Mar 16;:
pubmed: 33723576
Nat Genet. 2018 Oct;50(10):1412-1425
pubmed: 30224653
Nat Commun. 2019 Nov 12;10(1):5121
pubmed: 31719535
Nat Genet. 2019 Mar;51(3):414-430
pubmed: 30820047
Neurology. 2019 Feb 12;92(7):307-308
pubmed: 30674598
Front Neurol. 2019 Sep 06;10:945
pubmed: 31555200
Cells. 2020 Mar 01;9(3):
pubmed: 32121518

Auteurs

Elena Muiño (E)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.

Jara Cárcel-Márquez (J)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.

Caty Carrera (C)

Neurovascular Research Laboratory, VHIR, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.

Laia Llucià-Carol (L)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.

Cristina Gallego-Fabrega (C)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Natalia Cullell (N)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Stroke Pharmacogenomics and Genetics, Fundació MútuaTerrassa per la Docència i la Recerca, 08221 Terrassa, Spain.

Miquel Lledós (M)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.

José Castillo (J)

Clinical Neurosciences Research Laboratories, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain.

Tomás Sobrino (T)

Clinical Neurosciences Research Laboratories, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain.

Francisco Campos (F)

Clinical Neurosciences Research Laboratories, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain.

Emilio Rodríguez-Castro (E)

Department of Neurology, CHUS, 15706 Santiago de Compostela, Spain.

Mònica Millán (M)

Department of Neuroscience, HUGTP, 08025 Badalona, Spain.

Lucía Muñoz-Narbona (L)

Department of Neuroscience, HUGTP, 08025 Badalona, Spain.

Alejandro Bustamante (A)

Department of Neuroscience, HUGTP, 08025 Badalona, Spain.

Elena López-Cancio (E)

Stroke Unit, HUCA, 33011 Oviedo, Spain.

Marc Ribó (M)

Stroke Unit, HUVH, 08025 Barcelona, Spain.

José Álvarez-Sabín (J)

Department of Neurology, HUVH, UAB, 08025 Barcelona, Spain.

Jordi Jiménez-Conde (J)

Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain.

Jaume Roquer (J)

Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain.

Eva Giralt-Steinhauer (E)

Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain.

Carolina Soriano-Tárraga (C)

Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain.

Cristófol Vives-Bauza (C)

Neurobiology Laboratory, IdISPa, 07120 Mallorca, Spain.

Rosa Díaz-Navarro (R)

Department of Neurology, HUSE, 07120 Mallorca, Spain.

Silvia Tur (S)

Department of Neurology, HUSE, 07120 Mallorca, Spain.

Victor Obach (V)

Department of Neurology, Hospital Clínic i Provincial de Barcelona, 08025 Barcelona, Spain.

Juan F Arenillas (JF)

Department of Neurology, Hospital Clínico Universitario, University of Valladolid, 47003 Valladolid, Spain.

Tomás Segura (T)

Department of Neurology, CHUA, 02006 Albacete, Spain.

Gemma Serrano-Heras (G)

Experimental Research Unit, CHUA, 02006 Albacete, Spain.

Joan Martí-Fàbregas (J)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Raquel Delgado-Mederos (R)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Pol Camps-Renom (P)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Luis Prats-Sánchez (L)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Daniel Guisado (D)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Marina Guasch (M)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Rebeca Marin (R)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Alejandro Martínez-Domeño (A)

Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Maria Del Mar Freijo-Guerrero (MDM)

Neurovascular Unit, Biocruces Bizkaia Health Research Institute, 48903 Bilbao, Spain.

Francisco Moniche (F)

Department of Neurology, Virgen del Rocío, IBIS, 41013 Seville, Spain.

Juan Antonio Cabezas (JA)

Department of Neurology, Virgen del Rocío, IBIS, 41013 Seville, Spain.

Mar Castellanos (M)

Department of Neurology, CHUAC, 15006 A Coruña, Spain.

Jerzy Krupinsky (J)

School of Healthcare Science, Manchester Metropolitan University, Manchester M15 6BH, UK.
Neurology Unit, Hospital Universitari Mútua Terrassa, 08221 Terrassa, Spain.

Daniel Strbian (D)

Department of Neurology, Helsinki University Hospital, FI-00029 Helsinki, Finland.

Turgut Tatlisumak (T)

Department of Clinical Neuroscience, Institute of Neurosciences and Physiology, Sahlgrenska Academy at University of Gothenburg, 41345 Gothenburg, Sweden.
Department of Neurology, Sahlgrenska University Hospital, 41345 Gothenburg, Sweden.

Vincent Thijs (V)

Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, VIC 3072, Australia.
Department of Neurology, Austin Health, Heidelberg, VIC 3072, Australia.

Robin Lemmens (R)

Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, 3000 Leuven, Belgium.

Agnieszka Slowik (A)

Department of Neurology, Jagiellonian University Medical College, 31-007 Kraków, Poland.

Joanna Pera (J)

Department of Neurology, Jagiellonian University Medical College, 31-007 Kraków, Poland.

Laura Heitsch (L)

Division of Emergency Medicine, Washington University School of Medicine, St. Louis, MO 63110-1010, USA.
Department of Neurology, Washington University School of Medicine, St. Louis MO 63110-1010, USA.

Laura Ibañez (L)

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110-1010, USA.

Carlos Cruchaga (C)

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110-1010, USA.

Rajat Dhar (R)

Department of Neurology, Washington University School of Medicine, St. Louis MO 63110-1010, USA.

Jin-Moo Lee (JM)

Department of Neurology, Washington University School of Medicine, St. Louis MO 63110-1010, USA.

Joan Montaner (J)

Department of Neurology, Virgen del Rocío, IBIS, 41013 Seville, Spain.

Israel Fernández-Cadenas (I)

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.

Classifications MeSH