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PATJ Low Frequency ...
PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome A Genome-Wide Meta-Analysis
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Mola-Caminal, M. (author)
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Carrera, C. (author)
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Soriano-Tarraga, C. (author)
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show more...
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Giralt-Steinhauer, E. (author)
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Daaz-Navarro, R. M. (author)
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Tur, S. (author)
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Jiménez, Carmen (author)
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Medina-Dols, A. (author)
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Cullell, N. (author)
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Torres-Aguila, N. P. (author)
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Muino, E. (author)
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Rodriguez-Campello, A. (author)
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Ois, A. (author)
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Cuadrado-Godia, E. (author)
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Vivanco-Hidalgo, R. M. (author)
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Hernandez-Guillamon, M. (author)
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Sol, M. (author)
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Delgado, P. (author)
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Bustamante, A. (author)
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Garcia-Berrocoso, T. (author)
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Mendioroz, M. (author)
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Castellanos, M. (author)
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Serena, J. (author)
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Marti-Fabregas, J. (author)
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Segura, T. (author)
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Serrano-Heras, G. (author)
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Obach, V. (author)
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Rib, M. (author)
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Molina, C. A. (author)
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Alvarez-Sabin, J. (author)
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Palomeras, E. (author)
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Freijo, M. (author)
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Font, M. A. (author)
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Rosand, J. (author)
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Rost, N. S. (author)
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Gallego-Fabrega, C. (author)
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Lee, J. M. (author)
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Heitsch, L. (author)
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Ibanez, L. (author)
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Cruchaga, C. (author)
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Phuah, C. L. (author)
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Lemmens, R. (author)
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Thijs, V. (author)
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Lindgren, A. (author)
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Maguire, J. (author)
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Rannikmae, K. (author)
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Sudlow, C. L. (author)
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- Jern, Christina, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Stanne, Tara M, 1979 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Lorentzen, Erik, 1974 (author)
- Gothenburg University,Göteborgs universitet,Core Facilities, Bioinformatics,Core Facilities, Bioinformatics
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Munoz-Narbona, L. (author)
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Davalos, A. (author)
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Lopez-Cancio, E. (author)
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Worrall, B. B. (author)
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Woo, D. (author)
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Kittner, S. J. (author)
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Mitchell, B. D. (author)
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Montaner, J. (author)
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Roquer, J. (author)
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Krupinski, J. (author)
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Estivill, X. (author)
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Rabionet, R. (author)
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Vives-Bauz, C. (author)
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Fernandez-Cadenas, I. (author)
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Jimenez-Conde, J. (author)
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(creator_code:org_t)
- Ovid Technologies (Wolters Kluwer Health), 2019
- 2019
- English.
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In: Circulation research. - : Ovid Technologies (Wolters Kluwer Health). - 0009-7330 .- 1524-4571. ; 124:1, s. 114-120
- Related links:
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https://www.ahajourn...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Rationale: 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. Objective: 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. Methods and Results: 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, beta=0.40, P=1.70x10-9). Conclusions: 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- allele
- genetic loci
- genetic variant
- genome-wide association study
- ischemic stroke
- genetics
- scale
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Mola-Caminal, M.
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Carrera, C.
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Soriano-Tarraga, ...
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Giralt-Steinhaue ...
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Daaz-Navarro, R. ...
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Tur, S.
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show more...
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Jiménez, Carmen
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Medina-Dols, A.
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Cullell, N.
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Torres-Aguila, N ...
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Muino, E.
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Rodriguez-Campel ...
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Ois, A.
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Cuadrado-Godia, ...
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Vivanco-Hidalgo, ...
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Hernandez-Guilla ...
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Sol, M.
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Delgado, P.
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Bustamante, A.
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Garcia-Berrocoso ...
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Mendioroz, M.
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Castellanos, M.
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Serena, J.
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Marti-Fabregas, ...
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Segura, T.
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Serrano-Heras, G ...
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Obach, V.
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Rib, M.
-
Molina, C. A.
-
Alvarez-Sabin, J ...
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Palomeras, E.
-
Freijo, M.
-
Font, M. A.
-
Rosand, J.
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Rost, N. S.
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Gallego-Fabrega, ...
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Lee, J. M.
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Heitsch, L.
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Ibanez, L.
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Cruchaga, C.
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Phuah, C. L.
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Lemmens, R.
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Thijs, V.
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Lindgren, A.
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Maguire, J.
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Rannikmae, K.
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Sudlow, C. L.
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Jern, Christina, ...
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Stanne, Tara M, ...
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Lorentzen, Erik, ...
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Munoz-Narbona, L ...
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Davalos, A.
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Lopez-Cancio, E.
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Worrall, B. B.
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Woo, D.
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Kittner, S. J.
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Mitchell, B. D.
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Montaner, J.
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Roquer, J.
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Krupinski, J.
-
Estivill, X.
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Rabionet, R.
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Vives-Bauz, C.
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Fernandez-Cadena ...
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Jimenez-Conde, J ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Circulation rese ...
- By the university
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University of Gothenburg