ArticleProceedings of the National Academy of Sciences of the United States of America2017
Common coding variant in
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 4 of them syntheses that pooled it.
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29citing papers in PubMed, 4 pooled it
2.0field-weighted citation impact, top 14% of its field
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Who cites it
29 citing papers in PubMed, 4 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Serpin family proteins as potential biomarkers and therapeutic drugs in stroke: A systematic review and meta-analysis on clinical/preclinical studies.CNS neuroscience & therapeutics · 2023Pooled it
- Phenotypic and Genotypic Associations Between Migraine and Lipoprotein Subfractions.Neurology · 2021Pooled it
- Targeting epigenetics and non-coding RNAs in atherosclerosis: from mechanisms to therapeutics.Pharmacology & therapeutics · 2019Pooled it
- Genetic susceptibility to cerebrovascular disease: A systematic review.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2018Pooled it
- Migrasomes in Ischemic Stroke: Molecular Landscape and Pathophysiological Impact.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Multi-omics characterization of anoikis-related hub genes and macrophage-centered immune persistence with validation of HAVCR2 in atherosclerosis.Frontiers in immunology · 2026Article
- An association study ofBiochemistry and biophysics reports · 2025Article
- a1-antitrypsin, a new biomarker of polycystic ovary syndrome by changing its expression and rhythm.Journal of ovarian research · 2025Article
- Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries.Cell genomics · 2023Article
- Article
- Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.Journal of neurology · 2023Article
- Common Genetic Factors and Pathways in Alzheimer's Disease and Ischemic Stroke: Evidences from GWAS.Genes · 2023Review
- Identification and cross-validation of autophagy-related genes in cardioembolic stroke.Frontiers in neurology · 2023Article
- Genetics of ANCA-associated vasculitis: role in pathogenesis, classification and management.Nature reviews. Rheumatology · 2022Review
- Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.Rheumatology (Oxford, England) · 2022Article
- Bioinformatics Strategies to Identify Shared Molecular Biomarkers That Link Ischemic Stroke and Moyamoya Disease with Glioblastoma.Pharmaceutics · 2022Article
- Ischemic Stroke and Sleep: The Linking Genetic Factors.Cardiology and therapy · 2021Review
- Article
- Atorvastatin and blood flow regulate expression of distinctive sets of genes in mouse carotid artery endothelium.Current topics in membranes · 2021Article
- Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview ofThe application of clinical genetics · 2021Review
Corrections and comments
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Authors and funding
33 authors at 14 institutions in 6 countries.
Rainer MalikInstitute for Stroke and Dementia Research, Klinikum der Universität München, Munich 81377, Germany.
Therese DauComprehensive Pneumology Center, Institute of Lung Biology and Disease, University Hospital, Ludwig Maximilians University and Helmholtz Zentrum München, German Center for Lung Research, Munich 81377, Germany.
Maria GonikInstitute for Stroke and Dementia Research, Klinikum der Universität München, Munich 81377, Germany.
Anirudh SivakumarDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD 21201.
Daniel J DeredgeDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD 21201.
Evgeniia V EdelevaSystems Biophysics, Physics Department, Nanosystems Initiative Munich and Center for NanoScience, Ludwig-Maximilians-Universität Munich, Munich 80799, Germany.
Jessica GötzfriedComprehensive Pneumology Center, Institute of Lung Biology and Disease, University Hospital, Ludwig Maximilians University and Helmholtz Zentrum München, German Center for Lung Research, Munich 81377, Germany.
Sander W van der LaanLaboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands.ORCID 0000-0001-6888-1404
Gerard PasterkampLaboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands.
Nathalie BeaufortInstitute for Stroke and Dementia Research, Klinikum der Universität München, Munich 81377, Germany.
Susana SeixasInstituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Steve BevanDepartment of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, United Kingdom.
Lisa F LinczPublic Health Research Program, Hunter Medical Research Institute, Newcastle, 2305, Australia.
Elizabeth G HollidayPublic Health Research Program, Hunter Medical Research Institute, Newcastle, 2305, Australia.
Annette I BurgessStroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, United Kingdom.
Kristiina RannikmäeDivision of Clinical Neurosciences, University of Edinburgh, Edinburgh EH16 4SB, United Kingdom.
Jens MinnerupInstitute of Epidemiology and Social Medicine, University of Münster, Muenster 48149, Germany.
Jennifer KriebelResearch Unit Molecular Epidemiology, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg 85764, Germany.
Melanie WaldenbergerResearch Unit Molecular Epidemiology, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg 85764, Germany.
Martina Müller-NurasyidInstitut für Genetische Epidemiologie, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Neuherberg 85764, Germany.
Peter LichtnerInstitut für Humangenetik, Helmholtz Zentrum München, Munich 85764, Germany.
Danish SaleheenDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
International Stroke Genetics Consortium
Peter M RothwellStroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, United Kingdom.
Christopher LeviPublic Health Research Program, Hunter Medical Research Institute, Newcastle, 2305, Australia.
John AttiaPublic Health Research Program, Hunter Medical Research Institute, Newcastle, 2305, Australia.
Cathie L M SudlowDivision of Clinical Neurosciences, University of Edinburgh, Edinburgh EH16 4SB, United Kingdom.
Dieter BraunSystems Biophysics, Physics Department, Nanosystems Initiative Munich and Center for NanoScience, Ludwig-Maximilians-Universität Munich, Munich 80799, Germany.
Hugh S MarkusDepartment of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, United Kingdom.
Patrick L WintrodeDepartment of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, MD 21201.
Klaus BergerInstitute of Epidemiology and Social Medicine, University of Münster, Muenster 48149, Germany.
Dieter E JenneComprehensive Pneumology Center, Institute of Lung Biology and Disease, University Hospital, Ludwig Maximilians University and Helmholtz Zentrum München, German Center for Lung Research, Munich 81377, Germany.
Martin DichgansInstitute for Stroke and Dementia Research, Klinikum der Universität München, Munich 81377, Germany; martin.dichgans@med.uni-muenchen.de.
Biomax Informatics (Germany) · DEHelmholtz Zentrum München · DEHunter Medical Research Institute · AUCenter for NanoScience · DEUniversity of Cambridge · GBUniversity of Maryland, Baltimore · USUniversity Medical Center Utrecht · NLUniversity of Edinburgh · GBUniversity of Münster · DEMunich Cluster for Systems Neurology · DEStroke Association · GBUniversidade do Porto · PTUniversity of Oxford · GBUniversity of Pennsylvania · US
Funding
Department of HealthMedical Research CouncilWellcome Trust 076113Wellcome Trust 085475/B/08/ZWellcome Trust 085475/Z/08/ZWellcome Trust 090355Wellcome Trust 095626Wellcome Trust WT084724MA
Abstract
Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (
Indexed as
Polymorphism, Single Nucleotide3' Untranslated Regionsalpha 1-AntitrypsinDeuterium Exchange MeasurementGenetic Association StudiesHistone DeacetylasesHumansLeukocyte ElastaseMass SpectrometryPlaque, AtheroscleroticRepressor ProteinsStroke3' Untranslated Regionsalpha 1-AntitrypsinHDAC9 protein, humanHistone DeacetylasesLeukocyte ElastaseRepressor ProteinsSERPINA1 protein, humanantitrypsingeneticsischemic strokelarge artery strokevariation
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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.