SynthesisCirculation. Genomic and precision medicine2024
Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Circulation. Genomic and precision medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
What it found
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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.
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.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic insights into cardiac conduction disorders from genome-wide association studies.Human genomics · 2025Pooled it
- Environmental Exposures and Epigenetic Remodeling in Supraventricular Tachycardias: What Atrial Fibrillation Can and Cannot Tell Us.Life (Basel, Switzerland) · 2026Review
- Genetics of supraventricular tachycardia: current evidence with a focus on translational relevance and personalized medicine.Frontiers in cardiovascular medicine · 2026Review
- CCDC141 is a Connectin/Titin and Nesprin-1 binding protein that adapts cardiomyocytes to mechanical stress.Communications biology · 2025Article
- Arrhythmias across the tree of life: comparative insights for human electrophysiology.Frontiers in cardiovascular medicine · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
60 authors.
Lu-Chen Weng *Cardiovascular Research Center (L.-C.W.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0003-1475-4930
Shaan Khurshid *Demoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-2840-4539
Amelia Weber Hall *Gene Regulation Observatory (A.W.H.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-7915-0313
Victor NauffalMassachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0001-7199-299X
Valerie N MorrillMassachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.
Yan V SunDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA (Y.V.S.).
Joel T RämöMassachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-6429-5149
Dominik BeerHeart Institute (D.B., C.M.H.), Geisinger, Danville, PA.
Simon LeeIcahn School of Medicine at Mount Sinai, New York, NY (S.L., G.N.).ORCID 0000-0003-1874-2515
Girish NadkarniIcahn School of Medicine at Mount Sinai, New York, NY (S.L., G.N.).ORCID 0000-0001-6319-4314
Renee JohnsonVictor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.ORCID 0000-0002-8979-2096
Laura AndreasenDepartment of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).ORCID 0000-0002-4732-4921
Anne ClaytonIntermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.).ORCID 0009-0004-2884-9062
Clive R PullingerCardiovascular Research Institute and Department of Physiological Nursing (C.R.P.), University of California, San Francisco.ORCID 0000-0003-3213-1374
Zachary T YonedaDepartment of Medicine, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (Z.T.Y., M.B.S.).ORCID 0000-0002-2055-732X
Daniel J FriedmanDivision of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC.ORCID 0000-0001-5791-1954
Matthew C HymanDivision of Cardiac Electrophysiology, Hospital of the University of Pennsylvania, Philadelphia (M.C.H.).ORCID 0000-0002-4050-6925
Renae L JudyDepartment of Surgery (R.L.J.), University of Pennsylvania, Philadelphia.ORCID 0000-0003-0915-2222
Allan C SkanesDivision of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.).ORCID 0000-0001-8332-8551
Kate M OrlandDivision of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, WI (K.M.O., L.L.E.).ORCID 0000-0003-4510-448X
Paloma JordàMontreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.).ORCID 0000-0002-9236-1713
Timothy M TreuVA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA.
Matthew T OetjensAutism and Developmental Medicine Institute, Geisinger, Lewisburg, PA (M.T.O., R.K.L.).
Rajesh SubbiahVictor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.ORCID 0000-0003-0738-1259
Jacob P HartmannDepartment of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).ORCID 0000-0003-0829-2645
Heidi T MayIntermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.).ORCID 0000-0002-7524-5905
John P KaneCardiovascular Research Institute (J.P.K.), University of California, San Francisco.ORCID 0000-0001-8049-3850
Tariq Z IssaFeinberg School of Medicine, Northwestern University, Chicago, IL (T.Z.I.).ORCID 0000-0002-0978-5225
Navid A NafissiDivision of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-0706-9548
Peter Leong-SitDivision of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.).
Marie-Pierre DubéMontreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.).ORCID 0000-0001-8442-4393
Carolina RoselliMassachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0001-5267-6756
Seung Hoan ChoiMassachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-2797-3190
FinnGen, Million Veteran Program, Regeneron Genetics Center
Jean-Claude TardifMontreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.).ORCID 0000-0002-8200-8983
Habib R KhanDivision of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.).ORCID 0000-0002-4828-5768
Stacey KnightIntermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.).ORCID 0000-0003-0092-7327
Jesper H SvendsenDepartment of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).ORCID 0000-0001-8466-8515
Bruce WalkerSt Vincent's Hospital (R.S., B.W., D.F.), Darlinghurst, NSW.
Richard Karlsson LinnérAutism and Developmental Medicine Institute, Geisinger, Lewisburg, PA (M.T.O., R.K.L.).ORCID 0000-0001-7839-2858
J Michael GazianoVA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA.ORCID 0000-0002-5384-9767
Rafik TadrosMontreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.).ORCID 0000-0002-1472-0258
Diane FatkinVictor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.ORCID 0000-0002-9010-9856
Daniel J RaderDivision of Cardiovascular Medicine, Department of Medicine (D.J.R.), University of Pennsylvania, Philadelphia.ORCID 0000-0002-9245-9876
Svati H ShahDivision of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-3495-2830
Dan M RodenVanderbilt University Medical Center, Nashville, TN (D.M.R.).
Gregory M MarcusDivision of Cardiology (G.M.M.), University of California, San Francisco.ORCID 0000-0001-5197-7696
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY (R.J.F.L.).ORCID 0000-0002-8532-5087
Scott M DamrauerDepartment of Surgery and Department of Genetics, Perelman School of Medicine (S.M.D.), University of Pennsylvania, Philadelphia.ORCID 0000-0001-8009-1632
Christopher M HaggertyHeart Institute (D.B., C.M.H.), Geisinger, Danville, PA.ORCID 0000-0002-3227-4490
Kelly ChoVA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA.
Aarno PalotieAnalytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, Department of Psychiatry (A.P.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-2527-5874
Morten S OlesenDepartment of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).ORCID 0000-0001-9477-5322
Lee L EckhardtDivision of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, WI (K.M.O., L.L.E.).ORCID 0000-0001-5792-064X
Jason D RobertsDivision of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.).ORCID 0000-0003-0268-6723
Michael J CutlerIntermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.).ORCID 0000-0001-9498-7472
M Benjamin ShoemakerDepartment of Medicine, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (Z.T.Y., M.B.S.).ORCID 0000-0001-6824-7155
Peter W F WilsonDepartment of Medicine, Emory University School of Medicine, Atlanta, GA (P.W.F.W.).ORCID 0000-0002-5653-7056
Patrick T EllinorDemoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-2067-0533
Steven A LubitzDemoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.ORCID 0000-0002-9599-4866
Funding
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MMULTIDISCIPLINARY HEART &VASCULAR DISEASEST32HL007101 · NHLBI · DUKE UNIVERSITY · PI FREEDMAN, NEIL J. · 1985 to 2020
$9.8MGenomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3MA Precision Medicine Approach to Arrhythmogenic CardiomyopathyR01HL141901 · NHLBI · GEISINGER CLINIC · PI CARRUTH, ERIC DAVID · 2019 to 2023
$3.1MUsing Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9MDeep Mutational Scanning and Functional Analysis of Repolarization DeterminantsR01HL163987 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI ECKHARDT, LEE LOCHBAUM · 2022 to 2025
$1.6MKCNJ2-Induced Arrhythmia Mechanisms in CPVT and Heart Failure.R01HL139738 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI ECKHARDT, LEE LOCHBAUM · 2018 to 2021
$1.5MElectrocardiogram-based deep learning and decision analysis to improve atrial fibrillation risk estimationK23HL169839 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Shaan Khurshid · 2023 to 2026
$860kCSRD VA IK2 CX001780NHLBI NIH HHS K23 HL169839NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL139738NHLBI NIH HHS R01 HL141901NHLBI NIH HHS R01 HL157635NHLBI NIH HHS R01 HL163987NHLBI NIH HHS T32 HL007101
Abstract
backgroundSubstantial data support a heritable basis for supraventricular tachycardias, but the genetic determinants and molecular mechanisms of these arrhythmias are poorly understood. We sought to identify genetic loci associated with atrioventricular nodal reentrant tachycardia (AVNRT) and atrioventricular accessory pathways or atrioventricular reciprocating tachycardia (AVAPs/AVRT).
methodsWe performed multiancestry meta-analyses of genome-wide association studies to identify genetic loci for AVNRT (4 studies) and AVAP/AVRT (7 studies). We assessed evidence supporting the potential causal effects of candidate genes by analyzing relations between associated variants and cardiac gene expression, performing transcriptome-wide analyses, and examining prior genome-wide association studies.
resultsAnalyses comprised 2384 AVNRT cases and 106 489 referents, and 2811 AVAP/AVRT cases and 1,483 093 referents. We identified 2 significant loci for AVNRT, which implicate
conclusionsOur findings highlight gene regions associated with ion channel function (AVAP/AVRT), as well as cardiac development and the sarcomere (AVAP/AVRT and AVNRT) as important potential effectors of supraventricular tachycardia susceptibility.
Indexed as
Genome-Wide Association StudyTachycardia, SupraventricularConnectinGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideTachycardia, Atrioventricular Nodal ReentryTranscriptomeConnectinatrial fibrillationgenome-wide association studyheart rateheart ventriclestachycardia, supraventricular
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