Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21981
Title: PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
Austin Authors: Mola-Caminal, Marina;Carrera, Caty;Soriano-Tárraga, Carolina;Giralt-Steinhauer, Eva;Díaz-Navarro, Rosa M;Tur, Sílvia;Jiménez, Carmen;Medina-Dols, Aina;Cullell, Natàlia;Torres-Aguila, Nuria P;Muiño, Elena;Rodríguez-Campello, Ana;Ois, Angel;Cuadrado-Godia, Elisa;Vivanco-Hidalgo, Rosa M;Hernandez-Guillamon, Mar;Solé, Montse;Delgado, Pilar;Bustamante, Alejandro;García-Berrocoso, Teresa;Mendióroz, Maite;Castellanos, Mar;Serena, Joaquín;Martí-Fàbregas, Joan;Segura, Tomás;Serrano-Heras, Gemma;Obach, Victor;Ribó, Marc;Molina, Carlos A;Alvarez-Sabín, José;Palomeras, Ernest;Freijo, Mar;Font, Maria A;Rosand, Jonathan;Rost, Natalia S;Gallego-Fabrega, Cristina;Lee, Jin-Moo;Heitsch, Laura;Ibanez, Laura;Cruchaga, Carlos;Phuah, Chia-Ling;Lemmens, Robin;Thijs, Vincent N ;Lindgren, Arne;Maguire, Jane;Rannikmae, Kristiina;Sudlow, Catherine L;Jern, Christina;Stanne, Tara M;Lorentzen, Erik;Muñoz-Narbona, Lucía;Dávalos, Antonio;López-Cancio, Elena;Worrall, Bradford B;Woo, Daniel;Kittner, Steven J;Mitchell, Braxton D;Montaner, Joan;Roquer, Jaume;Krupinski, Jurek;Estivill, Xavier;Rabionet, Raquel;Vives-Bauzá, Cristòfol;Fernández-Cadenas, Israel;Jiménez-Conde, Jordi
Affiliation: Neurovascular Research Laboratory, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona
From the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra
Department of Neurology, Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca
Research Unit, Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca
Stroke Pharmacogenomics and Genetics Group, Fundació Docència i Recerca Mútua Terrassa
From the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra
Neurovascular Research Laboratory, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona
Neurology Service, A Coruña University Hospital and Biomedical Research Institute, La Coruña
Department of Neurology, Doctor Josep Trueta University Hospital, Girona Institute of Biomedical Investigation
Stroke Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona
Department of Neurology, Complejo Hospitalario Universitario de Albacete
Research Unit, Complejo Hospitalario Universitario de Albacete
Department of Neurology, Hospital Clínic i Provincial de Barcelona
Stroke Unit, Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona
Department of Neurology, Hospital de Mataró
Department of Neurology, Hospital de Basurto, Bilbao
Department of Neurology, Hospital de Bellvitge, Hospitalet de Llobregat
Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra
Department of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Harvard Medical School, Boston
Department of Neurology, Washington University School of Medicine, St. Louis, MO
Division of Clinical Brain Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, United Kingdom
Institute of Biomedicine, the Sahlgrenska Academy at University of Gothenburg
Bioinformatics Core Facility, University of Gothenburg
Stroke Unit, Department of Neurosciences, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona
Stroke Unit, Hospital Universitario Central de Asturias (HUCA), Oviedo
Neurology and Department of Public Health Sciences, University of Virginia, Charlottesville
Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, OH
Department of Neurology, University of Maryland School of Medicine and Baltimore VAMC, MD
Neurology Unit, Neuroscience Department, Mútua de Terrassa Hospital
Centre for Genomic Regulation, Barcelona
Research Unit, Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca
From the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra
Department of Genetics, Universitat de Barcelona
Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, MD
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD
Neurovascular Research Laboratory, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona
Stroke Pharmacogenomics and Genetics Group, Fundació Docència i Recerca Mútua Terrassa
Stroke Pharmacogenomics and Genetics Group, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona
Research Department, Sidra Medicine, Doha, Qatar
Genomics Unit, Dexeus Woman's Health, Barcelona
Department of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Harvard Medical School, Boston
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA
Center for Genomic Medicine, Massachusetts General Hospital, Boston
Neurovascular Research Laboratory, Institute of Biomedicine of Seville, Hospital Universitario Virgen del Rocío, CSIC, Universidad de Sevilla
Department of Neurology, Hospital Universitario Virgen Macarena, Sevilla
Faculty of Health, University of Technology, Sidney
Priority Research Centre for Stroke and Brain Injury, Hunter Medical Research Institute, University of Newcastle, Australia
Clinical Sciences Lund, Neurology, Lund University, Sweden
Neurology and Rehabilitation Medicine, Skåne University Hospital, Lund, Sweden
Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Australia
Department of Neurology, Austin Health, Heidelberg, Victoria, Australia
Department of Neurosciences, Experimental Neurology, KU Leuven - University of Leuven, Belgium
Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven
Department of Neurology, University Hospitals Leuven
Department of Neurology, Washington University School of Medicine, St. Louis, MO
The Division of Emergency Medicine, Washington University School of Medicine, St. Louis, MO
From the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra
Issue Date: 4-Jan-2019
Publication information: Circulation research 2019; 124(1): 114-120
Abstract: Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome. Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date. A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, β=0.40, P=1.70×10-9). Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci.
URI: http://ahro.austin.org.au/austinjspui/handle/1/21981
DOI: 10.1161/CIRCRESAHA.118.313533
ORCID: 0000-0002-6614-8417
PubMed URL: 30582445
Type: Journal Article
Subjects: allele
genetic loci
genetic variant
genome-wide association study
ischemic Stroke
Appears in Collections:Journal articles

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