Evidence map›Paper›PMID 34459509›Full record

ArticleAnnals of neurology2021

Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis.

Gie Ken-Dror, Ioana Cotlarciuc, Ida Martinelli, Elvira Grandone, Sini Hiltunen, Erik Lindgren, Maurizio Margaglione, Veronique Le Cam Duchez, Aude Bagan Triquenot, Marialuisa Zedde and 40 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.6field-weighted citation impact, top 14% 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

8 citing papers in PubMed, 19 citations in OpenAlex.

  1. Reducing the global burden of cerebral venous thrombosis: An international research agenda.International journal of stroke : official journal of the International Stroke Society · 2024
    Review
  2. Article
  3. Article
  4. Potential role of plasma branched-chain amino acids in the differential diagnosis of acute cerebral venous thrombosis.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023
    Article
  5. Observational
  6. Updates in Cerebral Venous Thrombosis.Current cardiology reports · 2022
    Review
  7. Review
  8. Review
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

50 authors at 20 institutions in 14 countries.

Gie Ken-DrorInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.ORCID 0000-0003-3747-7112
Ioana CotlarciucInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.
Ida MartinelliFondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Elvira GrandoneAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Home for the Relief of Suffering, S. Giovanni Rotondo, Foggia, Italy.
Sini HiltunenNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Erik LindgrenDepartment of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Maurizio MargaglioneMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
Veronique Le Cam DuchezNormandy University, UNIROUEN, INSERM U1096, Rouen University Hospital, Vascular Hemostasis Unit and INSERM CIC-CRB 1404, Rouen, France.
Aude Bagan TriquenotDepartment of Neurology, Rouen University Hospital, Rouen, France.
Marialuisa ZeddeNeurology Unit, Stroke Unit, Local Health Unit-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.
Ynte M RuigrokUMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, the Netherlands.
Thomas MarjotOxford Liver Unit, Translational Gastroenterology Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Brad WorrallDepartment of Neurology, University of Virginia, Charlottesville, VA.
Jennifer J MajersikDepartment of Neurology, University of Utah, Salt Lake City, UT.
Tiina M MetsoNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Jukka PutaalaNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Elena HaapaniemiNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Susanna M ZuurbierDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.
Matthijs C BrouwerDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.
Serena M PassamontiFondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Maria AbbattistaFondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Paolo BucciarelliFondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Braxton D MitchellDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD.
Steven J KittnerDepartment of Neurology, University of Maryland School of Medicine, Baltimore, MD.
Robin LemmensDepartment of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven; VIB Center for Brain & Disease Research; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
Christina JernDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Emanuela PappalardoFondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Paolo CostaDepartment of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
Marina ColombiDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
Diana Aguiar de SousaDepartment of Neurosciences, Hospital of Santa Maria, University of Lisbon, Lisbon, Portugal.
Sofia RodriguesDepartment of Neurosciences, Hospital of Santa Maria, University of Lisbon, Lisbon, Portugal.
Patrícia CanhãoDepartment of Neurosciences, Hospital of Santa Maria, University of Lisbon, Lisbon, Portugal.
Aleksander TkachDepartment of Neurology, University of Utah, Salt Lake City, UT.
Rosa SantacroceMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
Giovanni FavuzziAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Home for the Relief of Suffering, S. Giovanni Rotondo, Foggia, Italy.
Antonio ArauzStroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.
Donatella ColaizzoAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Home for the Relief of Suffering, S. Giovanni Rotondo, Foggia, Italy.
Kostas SpengosDepartment of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece.
Amanda HodgeMcMaster University, Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Reina DittaMcMaster University, Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Alessandro PezziniDepartment of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
Stephanie DebetteDepartment of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France.
Jonathan M CoutinhoDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.
Vincent ThijsStroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia.
Katarina JoodDepartment of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Guillaume PareMcMaster University, Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Turgut TatlisumakNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
José M FerroDepartment of Neurosciences, Hospital of Santa Maria, University of Lisbon, Lisbon, Portugal.
Pankaj SharmaInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Helsinki · FIUniversity of Lisbon · PTAmsterdam Neuroscience · NLPopulation Health Research Institute · CASahlgrenska University Hospital · SEUniversity of Brescia · ITCasa Sollievo della Sofferenza · ITRoyal Holloway University of London · GBUniversity of Foggia · ITUniversity of Maryland, Baltimore · USUniversity of Utah · USAzienda Sanitaria Unità Locale di Reggio Emilia · ITImperial College Healthcare NHS Trust · GBInserm · FRInstituto Nacional de Neurología y Neurocirugía · MXNational and Kapodistrian University of Athens · GROxford University Hospitals NHS Trust · GBSechenov University · RUThe University of Melbourne · AU

Funding

The NINDS International Stroke Genetics Consortium StudyU01NS069208 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI HOWARD, GEORGE, 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
Genetics of Early-Onset Ischemic Stroke ConsortiumR01NS105150 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI KITTNER, STEVEN J, MITCHELL, BRAXTON D · 2018 to 2022
$3.0M
CNV And Stroke (CaNVAS)R01NS114045 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI COLE, JOHN W. · 2020 to 2024
$2.6M
Whole Exome Sequencing Study of Early-Onset Ischemic StrokeI01BX004672 · VA · BALTIMORE VA MEDICAL CENTER · PI JOHN W. COLE · 2021 to 2026
–
BLRD VA I01 BX004672NINDS NIH HHS R01 NS100178NINDS NIH HHS R01 NS105150NINDS NIH HHS R01 NS114045NINDS NIH HHS U01 NS069208
6 · The paper itself

Abstract

objectiveCerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood.

methodsA genome-wide association study was performed to identify genetic variants influencing susceptibility to CVT. A 2-stage genome-wide study was undertaken in 882 Europeans diagnosed with CVT and 1,205 ethnicity-matched control subjects divided into discovery and independent replication datasets.

resultsIn the overall case-control cohort, we identified highly significant associations with 37 single nucleotide polymorphisms (SNPs) within the 9q34.2 region. The strongest association was with rs8176645 (combined p = 9.15 × 10

interpretationWe present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. ANN NEUROL 2021;90:777-788.

Indexed as

Genome-Wide Association StudyAdultGenetic Predisposition to DiseaseHumansIntracranial ThrombosisMaleMiddle AgedRisk FactorsThrombophiliaVenous Thrombosis

Identifiers

PMID34459509
PMCPMC8666091
OpenAlexW3198400570

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.