Evidence map›Paper›PMID 30582445›Full record

SynthesisCirculation research2019

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.

Marina Mola-Caminal, Caty Carrera, Carolina Soriano-Tárraga, Eva Giralt-Steinhauer, Rosa M Díaz-Navarro, Sílvia Tur, Carmen Jiménez, Aina Medina-Dols, Natàlia Cullell, Nuria P Torres-Aguila and 55 more

Open access · greenAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Circulation research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 2 pooled it
7.0field-weighted citation impact, top 3% 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

40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Article
  7. The association of SUR1 polymorphisms with acute infarct size: The MRI-GENIE study.Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2025
    Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Genetics in Ischemic Stroke: Current Perspectives and Future Directions.Journal of cardiovascular development and disease · 2023
    Review
  15. Article
  16. Article
  17. The Study of the Association of Polymorphisms inInternational journal of molecular sciences · 2023
    Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

65 authors at 20 institutions in 7 countries.

Marina Mola-CaminalFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Caty CarreraNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Carolina Soriano-TárragaFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Eva Giralt-SteinhauerFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Rosa M Díaz-NavarroDepartment of Neurology (R.M.D.-N., S.T., C.J.), Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca.
Sílvia TurDepartment of Neurology (R.M.D.-N., S.T., C.J.), Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca.
Carmen JiménezDepartment of Neurology (R.M.D.-N., S.T., C.J.), Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca.
Aina Medina-DolsResearch Unit (A.M.-D., C.V.-B.), Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca.
Natàlia CullellStroke Pharmacogenomics and Genetics Group, Fundació Docència i Recerca Mútua Terrassa (N.C., N.P.T.-A., E.M., I.F.-C.).
Nuria P Torres-AguilaStroke Pharmacogenomics and Genetics Group, Fundació Docència i Recerca Mútua Terrassa (N.C., N.P.T.-A., E.M., I.F.-C.).
Elena MuiñoStroke Pharmacogenomics and Genetics Group, Fundació Docència i Recerca Mútua Terrassa (N.C., N.P.T.-A., E.M., I.F.-C.).
Ana Rodríguez-CampelloFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Angel OisFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Elisa Cuadrado-GodiaFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Rosa M Vivanco-HidalgoFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Mar Hernandez-GuillamonNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Montse SoléNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Pilar DelgadoNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Alejandro BustamanteNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Teresa García-BerrocosoNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Maite MendiórozNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Mar CastellanosNeurology Service, A Coruña University Hospital and Biomedical Research Institute, La Coruña (M.C.).
Joaquín SerenaDepartment of Neurology, Doctor Josep Trueta University Hospital, Girona Institute of Biomedical Investigation (J.S.).
Joan Martí-FàbregasStroke Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona (J.M.-F.S.).
Tomás SeguraDepartment of Neurology (T.S.), Complejo Hospitalario Universitario de Albacete.
Gemma Serrano-HerasResearch Unit (G.S.-H.), Complejo Hospitalario Universitario de Albacete.
Victor ObachDepartment of Neurology, Hospital Clínic i Provincial de Barcelona (V.O.).
Marc RibóStroke Unit, Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona (M.R., C.A.M., J.A.-S.).
Carlos A MolinaStroke Unit, Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona (M.R., C.A.M., J.A.-S.).
José Alvarez-SabínStroke Unit, Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona (M.R., C.A.M., J.A.-S.).
Ernest PalomerasDepartment of Neurology, Hospital de Mataró (E.P.).
Mar FreijoDepartment of Neurology, Hospital de Basurto, Bilbao (M.F.).
Maria A FontDepartment of Neurology, Hospital de Bellvitge, Hospitalet de Llobregat (M.A.F.).
Jonathan RosandFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Natalia S RostDepartment of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Harvard Medical School, Boston (J.R., N.S.R.).
Cristina Gallego-FabregaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (J.R., C.G.-F.).
Jin-Moo LeeDepartment of Neurology (J.-M.L., L.H., L.I., C.C., C.-L.P.), Washington University School of Medicine, St. Louis, MO.
Laura HeitschDepartment of Neurology (J.-M.L., L.H., L.I., C.C., C.-L.P.), Washington University School of Medicine, St. Louis, MO.
Laura IbanezDepartment of Neurology (J.-M.L., L.H., L.I., C.C., C.-L.P.), Washington University School of Medicine, St. Louis, MO.
Carlos CruchagaDepartment of Neurology (J.-M.L., L.H., L.I., C.C., C.-L.P.), Washington University School of Medicine, St. Louis, MO.
Chia-Ling PhuahDepartment of Neurology (J.-M.L., L.H., L.I., C.C., C.-L.P.), Washington University School of Medicine, St. Louis, MO.
Robin LemmensDepartment of Neurosciences, Experimental Neurology, KU Leuven - University of Leuven, Belgium (R.L.).
Vincent ThijsStroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Australia (V.T.).
Arne LindgrenClinical Sciences Lund, Neurology, Lund University, Sweden (A.L.).
Jane MaguireFaculty of Health, University of Technology, Sidney (J. Maguire).
Kristiina RannikmaeDivision of Clinical Brain Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, United Kingdom (K.R., C.L.S.).
Catherine L SudlowDivision of Clinical Brain Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, United Kingdom (K.R., C.L.S.).
Christina JernInstitute of Biomedicine, the Sahlgrenska Academy at University of Gothenburg (C.J., T.M.S.).
Tara M StanneInstitute of Biomedicine, the Sahlgrenska Academy at University of Gothenburg (C.J., T.M.S.).
Erik LorentzenBioinformatics Core Facility, University of Gothenburg (E.L.).
Lucía Muñoz-NarbonaStroke Unit, Department of Neurosciences, Hospital Universitari Germans Trias i Pujol (L.M.-N., A.D.), Universitat Autònoma de Barcelona.
Antonio DávalosStroke Unit, Department of Neurosciences, Hospital Universitari Germans Trias i Pujol (L.M.-N., A.D.), Universitat Autònoma de Barcelona.
Elena López-CancioStroke Unit, Hospital Universitario Central de Asturias (HUCA), Oviedo (E.L.-C.).
Bradford B WorrallNeurology and Department of Public Health Sciences, University of Virginia, Charlottesville (B.B.W.).
Daniel WooDepartment of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, OH (D.W.).
Steven J KittnerDepartment of Neurology, University of Maryland School of Medicine and Baltimore VAMC, MD (S.J.K.).
Braxton D MitchellGeriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, MD (B.D.M.).
Joan MontanerNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Jaume RoquerDepartment of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Harvard Medical School, Boston (J.R., N.S.R.).
Jurek KrupinskiNeurology Unit, Neuroscience Department, Mútua de Terrassa Hospital (J.K.).
Xavier EstivillResearch Department, Sidra Medicine, Doha, Qatar (X.E.).
Raquel RabionetCentre for Genomic Regulation, Barcelona (R.R.).
Cristòfol Vives-BauzáResearch Unit (A.M.-D., C.V.-B.), Son Espases University Hospital, Institut d'Investigació Sanitària de Les Illes Balears, Palma de Mallorca.
Israel Fernández-CadenasNeurovascular Research Laboratory, Vall d'Hebron Institute of Research (C.C., M.H.-G., M.S., P.D., A.B., T.G.-B., M.M., J.M., I.F.-C.), Universitat Autònoma de Barcelona.
Jordi Jiménez-CondeFrom the Department of Neurology, Neurovascular Research Group, Hospital del Mar Medical Research Institute, Universitat Autònoma de Barcelona/DCEXS-Universitat Pompeu Fabra (M.M.-C., C.S.-T., E.G.-S., A.R.-C., A.O., E.C.-G., R.M.V.-H., J.R., J.J.-C.).
Washington University in St. Louis · USHospital Universitario Son Espases · ESUniversity of Gothenburg · SEVall d'Hebron Hospital Universitari · ESBroad Institute · USComplejo Hospitalario Universitario de Albacete · ESHealth Research Institute of the Balearic Islands · ESUniversity of Edinburgh · GBAustin Health · AUBellvitge University Hospital · ESBiomedical Research Institute · USCentre for Genomic Regulation · ESHarvard University · USHospital Clínic de Barcelona · ESHospital de Basurto · ESHospital Del Mar · ESHospital de Mataró · ESHospital de Sant Pau · ESHospital Universitari de Girona Doctor Josep Trueta · ESHospital Universitari Germans Trias i Pujol · ES

Funding

Research BaseP30DK072488 · NIDDK · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D, TAYLOR, SIMEON I. · 2005 to 2019
$17.3M
The NINDS International Stroke Genetics Consortium StudyU01NS069208 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI KITTNER, STEVEN J · 2010 to 2013
$9.4M
Genetics of ischemic stroke in the SiGN ConsortiumR01NS100178 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI KITTNER, STEVEN J, MITCHELL, BRAXTON D · 2017 to 2021
$3.0M
Medical Research Council MR/S004130/1NIDDK NIH HHS P30 DK072488NINDS NIH HHS R01 NS100178NINDS NIH HHS U01 NS069208
6 · The paper itself

Abstract

rationaleIschemic 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.

objectiveOur 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

resultsA 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

conclusionsOur 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.

Indexed as

Polymorphism, Single NucleotideBrain IschemiaDisability EvaluationGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypeRecovery of FunctionRisk FactorsStrokeStroke RehabilitationTight Junction ProteinsTreatment OutcomePATJ protein, humanTight Junction Proteinsallelegenetic locigenetic variantgenome-wide association studyischemic stroke

Identifiers

PMID30582445
PMCPMC6501820
OpenAlexW2903351667

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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.