ArticleStroke2022
Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project.
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Article in Stroke, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- From GWAS Signals to Molecular Mechanisms: Explainable AI for Causal Gene Prioritization and Biomolecular Target Interpretation.Biomolecules · 2026Review
- Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Genetic predisposition to diabetes and risk of stroke in a Native Hawaiian population.Journal of diabetes and metabolic disorders · 2026Article
- Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Epigenetic Mechanisms Regulating Ferroptosis in Ischemic Stroke: From Pathogenesis to Therapeutic Targets.Cellular and molecular neurobiology · 2026Review
- Genetic and epigenetic architectures of stroke: Insights from GWAS to precision medicine.Neurochemistry international · 2025Review
- Decoding Stroke Etiology: Multi-Omics Advancements in Genetic Mechanisms and Clinical Implication.Brain and behavior · 2025Review
- Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond.Journal of cardiovascular development and disease · 2025Review
- [Identifying genetic etiology of ischemic stroke based on pleiotropy of obesity related genes: A sibling study].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Multidimensional Approach of Genotype and Phenotype in Stroke Etiology: The MAGPIE Study.Health science reports · 2024Article
- Is the Relationship Between Cardiovascular Disease and Alzheimer's Disease Genetic? A Scoping Review.Genes · 2024Article
- Article
- Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.Scientific reports · 2024Article
- Population Neuroscience: Principles and Advances.Current topics in behavioral neurosciences · 2024Review
- Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries.Cell genomics · 2023Article
- Bone Morphogenetic Protein 10-A Novel Biomarker to Predict Adverse Outcomes in Patients With Atrial Fibrillation.Journal of the American Heart Association · 2023Article
- Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke.Stroke · 2023Article
- Article
- Epigenetic mechanisms and potential therapeutic targets in stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2022Review
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Authors and funding
40 authors at 20 institutions in 4 countries.
Yao HuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA (Y.H., J.W.H., A.P.R., C.K.).ORCID 0000-0002-2810-646X
Jeffrey W HaesslerPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA (Y.H., J.W.H., A.P.R., C.K.).
Regina ManansalaSchool of Public Health, University of Wisconsin-Milwaukee (R.M., P.L.A.).ORCID 0000-0002-8202-1045
Kerri L WigginsCardiovascular Health Research Unit, Department of Medicine (K.L.W., J.C.B., B.M.P.).ORCID 0000-0003-2749-1279
Arden MoscatiThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, NY (A.M., R.D., R.J.F.L.).
Alexa BeiserDepartment of Neurology (A.B., N.L.H.-C., S.S.), Boston University School of Medicine, MA.
Nancy L Heard-CostaDepartment of Neurology (A.B., N.L.H.-C., S.S.), Boston University School of Medicine, MA.ORCID 0000-0001-9730-0306
Chloe SarnowskiDepartment of Biostatistics (A.B., C.S.), Boston University School of Public Health, MA.ORCID 0000-0002-6090-7099
Laura M RaffieldDepartment of Genetics, University of North Carolina, Chapel Hill (L.M.R).ORCID 0000-0002-7892-193X
Jaeyoon ChungDepartment of Medicine (J.C., R.S.V.), Boston University School of Medicine, MA.ORCID 0000-0002-6431-9454
Sandro MariniCenter for Genomic Medicine (J.C., S.M., C.D.A., J.R.), Massachusetts General Hospital, Boston.
Christopher D AndersonCenter for Genomic Medicine (J.C., S.M., C.D.A., J.R.), Massachusetts General Hospital, Boston.
Jonathan RosandCenter for Genomic Medicine (J.C., S.M., C.D.A., J.R.), Massachusetts General Hospital, Boston.
Huichun XuDepartment of Medicine, University of Maryland School of Medicine, Baltimore (H.X., B.D.M.).ORCID 0000-0001-8118-9607
Xiao SunDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (X.S., T.N.K.).ORCID 0000-0001-8802-2957
Tanika N KellyDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (X.S., T.N.K.).ORCID 0000-0002-7348-4451
Quenna WongDepartment of Biostatistics (Q.W.), University of Washington, Seattle.ORCID 0000-0002-9027-2100
Leslie A LangeDepartment of Medicine, University of Colorado, Denver, CO (L.A.L.).
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R.).ORCID 0000-0001-7191-1723
Adolfo CorreaDepartment of Pediatrics and Medicine, University of Mississippi Medical Center, Jackson, MS (A.C.).ORCID 0000-0002-9501-600X
Ramachandran S VasanDepartment of Medicine (J.C., R.S.V.), Boston University School of Medicine, MA.
Sudha SeshadriDepartment of Neurology (A.B., N.L.H.-C., S.S.), Boston University School of Medicine, MA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville (S.S.R.).ORCID 0000-0003-3872-7793
Ron DoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, NY (A.M., R.D., R.J.F.L.).ORCID 0000-0002-3144-3627
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, NY (A.M., R.D., R.J.F.L.).ORCID 0000-0002-8532-5087
William T LongstrethDepartment of Neurology (W.T.L., D.L.T.), University of Washington, Seattle.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine (K.L.W., J.C.B., B.M.P.).
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine (K.L.W., J.C.B., B.M.P.).ORCID 0000-0002-7278-2190
David L TirschwellDepartment of Neurology (W.T.L., D.L.T.), University of Washington, Seattle.
Themistocles L AssimesDepartment of Medicine, Stanford University, CA (T.L.A.).ORCID 0000-0003-2349-0009
Brian SilverDepartment of Neurology, University of Massachusetts Medical School, Worcester (B.S.).
Simin LiuCenter for Global Cardiometabolic Health, Departments of Epidemiology, Medicine, and Surgery, Brown University, Providence, RI (S.L.).ORCID 0000-0003-2098-3844
Rebecca JacksonDivision of Endocrinology Diabetes and Metabolism, The Ohio State University, Columbus (R.J.).
Sylvia Wassertheil-SmollerDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, NY (S.W.-S.).
Braxton D MitchellDepartment of Medicine, University of Maryland School of Medicine, Baltimore (H.X., B.D.M.).ORCID 0000-0003-4920-4744
Myriam FornageInstitute of Molecular Medicine, University of Texas Health Science Center at Houston (M.F.).
Paul L AuerSchool of Public Health, University of Wisconsin-Milwaukee (R.M., P.L.A.).
Alex P ReinerPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA (Y.H., J.W.H., A.P.R., C.K.).ORCID 0000-0002-1427-4470
Charles KooperbergPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA (Y.H., J.W.H., A.P.R., C.K.).ORCID 0000-0002-7986-8560
Trans-Omics for Precision Medicine (TOPMed) Stroke Working Group, the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Boston University · USCape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa · ZABroad Institute · USChild Health and Development Institute · USUniversity of Washington · USCardiovascular Research Center · BRMilwaukee Public Schools · USTulane University · USUniversity of Maryland, Baltimore · USAlbert Einstein College of Medicine · USBrown University · USSeattle University · USStanford University · USThe Ohio State University · USThe University of Texas Health Science Center at Houston · USUCLA Medical Center · USUniversity of Denver · USUniversity of Massachusetts Chan Medical School · USUniversity of Mississippi Medical Center · USUniversity of North Carolina at Chapel Hill · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MFRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · 2019 to 2024
$29.8MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MTask Area A Core Study Operations.Task Area A shall encompass annual follow-up of cohort members, clinical endpoints ascertainment, study coordination activities, maintenance of the database and biosp75N92020D00001 · NHLBI · UNIVERSITY OF WASHINGTON · PI MCCLELLAND, ROBYN LEAGH · 2020 to 2025
$17.2MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MExceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5MBritish Heart Foundation CH/1996001/9454Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS 75N92020D00001NHLBI NIH HHS 75N92020D00002NHLBI NIH HHS 75N92020D00003NHLBI NIH HHS 75N92020D00004NHLBI NIH HHS 75N92020D00005NHLBI NIH HHS 75N92020D00006NHLBI NIH HHS 75N92020D00007NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL136574NHLBI NIH HHS T32 HL129982NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIA NIH HHS K99 AG066849NIA NIH HHS R01 AG023629NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK125403NIDDK NIH HHS U01 DK078616NIEHS NIH HHS HHSN268201600033CNIH HHS S10 OD020069NIMHD NIH HHS HHSN268201800013ININDS NIH HHS R01 NS103924
Abstract
background and purposeStroke is the leading cause of death and long-term disability worldwide. Previous genome-wide association studies identified 51 loci associated with stroke (mostly ischemic) and its subtypes among predominantly European populations. Using whole-genome sequencing in ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) Program, we aimed to identify novel variants, especially low-frequency or ancestry-specific variants, associated with all stroke, ischemic stroke and its subtypes (large artery, cardioembolic, and small vessel), and hemorrhagic stroke and its subtypes (intracerebral and subarachnoid).
methodsWhole-genome sequencing data were available for 6833 stroke cases and 27 116 controls, including 22 315 European, 7877 Black, 2616 Hispanic/Latino, 850 Asian, 54 Native American, and 237 other ancestry participants. In TOPMed, we performed single variant association analysis examining 40 million common variants and aggregated association analysis focusing on rare variants. We also combined TOPMed European populations with over 28 000 additional European participants from the UK BioBank genome-wide array data through meta-analysis.
resultsIn the single variant association analysis in TOPMed, we identified one novel locus
conclusionsWe represent the first association analysis for stroke and its subtypes using whole-genome sequencing data from ancestrally diverse populations. While our findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds to identify possible low-frequency or ancestry-specific variants, they also highlight the need to increase genome coverage and sample sizes.
Indexed as
Genetic LociGenetic Predisposition to DiseasePolymorphism, Single NucleotidePrecision MedicineAgedAged, 80 and overFemaleGenome-Wide Association StudyHumansMaleMiddle AgedRacial GroupsStrokeWhole Genome Sequencingatherosclerosisblood pressurecause of deathembolic strokesample size
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