ArticleNature genetics2022
Genetic analysis of right heart structure and function in 40,000 people.
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Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 3 of them syntheses that pooled it.
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71citing papers in PubMed, 3 pooled it
7.8field-weighted citation impact, top 2% of its field
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Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.Nature communications · 2025Pooled it
- A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.EBioMedicine · 2025Pooled it
- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.Nature communications · 2022Pooled it
- Rationale and design of Dongzong CArdIovascuLar Bio-imaging RegistrY (DAILY) study: Bridging multiomics, imaging and cardiovascular disease.American journal of preventive cardiology · 2026Article
- Evaluating the consequences of childhood adiposity on the human plasma proteome at four timepoints across the lifecourse.Nature communications · 2026Article
- Genetic variants in pulmonary hypertension associated with chronic obstructive pulmonary disease.Current opinion in pulmonary medicine · 2026Review
- Inferring multi-organ genetic connections using imaging and clinical data through Mendelian randomization.Nature biomedical engineering · 2026Article
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Plasma Metabolite Associations with Incident Heart Failure with Reduced and Preserved Ejection Fraction.medRxiv : the preprint server for health sciences · 2026Article
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- Genetic Determinants of Pulmonary Artery Size in over 50,000 Subjects with and without COPD.medRxiv : the preprint server for health sciences · 2026Article
- Multi-organ imaging and genetics show the impact of sleep patterns on the human brain and body.Communications medicine · 2026Article
- Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes.Circulation. Genomic and precision medicine · 2026Article
- A generalizable deep learning system for cardiac MRI.Nature biomedical engineering · 2026Article
- Multiview deep learning improves detection of major cardiac conditions from echocardiography.Nature cardiovascular research · 2026Article
- Right and Left Atrial Dysfunction as Independent Cardiovascular Risk Factors: A UK Biobank Study.Circulation. Arrhythmia and electrophysiology · 2026Article
- Genomics of drug target prioritization for complex diseases.Nature reviews. Genetics · 2026Review
- Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.Nature genetics · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- The Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.Genes · 2025Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 17 institutions in 3 countries.
James P Pirruccello *Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6088-4037
Paolo Di Achille *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9256-0678
Victor Nauffal *Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7199-299X
Mahan NekouiCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7466-4801
Samuel F FriedmanCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Marcus D R KlarqvistCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7630-2708
Mark D ChaffinCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1234-5562
Lu-Chen WengCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1475-4930
Jonathan W CunninghamCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-4481-7867
Shaan KhurshidCardiology Division, Massachusetts General Hospital, Boston, MA, USA.
Carolina RoselliCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5267-6756
Honghuang LinFramingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-3043-3942
Satoshi KoyamaCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Kaoru ItoLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.ORCID http://orcid.org/0000-0003-1843-773X
Yoichiro KamataniLaboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Issei KomuroDepartment of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
BioBank Japan Project
Sean J JurgensCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1605-9782
Emelia J BenjaminFramingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-4076-2336
Puneet BatraData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6822-0593
Pradeep NatarajanCardiology Division, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8402-7435
Kenney NgIBM Research, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-0792-070X
Udo HoffmannDepartment of Radiology, Harvard Medical School, Boston, MA, USA.
Steven A LubitzCardiology Division, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9599-4866
Jennifer E HoHarvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7987-4768
Mark E LindsayCardiology Division, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6724-7938
Anthony A PhilippakisData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Patrick T EllinorCardiology Division, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-2067-0533
Broad Institute · USThe University of Tokyo · JPNihon University · JPRIKEN Center for Integrative Medical Sciences · JPFukuoka Tokushukai Hospital · JPHarvard University · USIwate Medical University · JPShiga University of Medical Science · JPTokyo Metropolitan Geriatric Hospital · JPUniversity of Tokyo Hospital · JPAso Iizuka Hospital · JPBeth Israel Deaconess Medical Center · USJapan Anti Tuberculosis Association · JPJuntendo University · JPNippon Medical School · JPOsaka National Hospital · JPUniversity of Massachusetts Chan Medical School · US
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
$20.6MTRAINING PROGRAM IN CARDIOVASCULAR RESEARCHT32HL007604 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARK W FEINBERG · 1985 to 2026
$19.0MConProject-006U54HL120163 · NHLBI · AMERICAN HEART ASSOCIATION · PI BHATNAGAR, ARUNI, ROBERTSON, ROSE MARIE · 2018 to 2022
$18.8MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MNoninvasive Cardiovascular Imaging Research Training ProgramT32HL094301 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI Marcelo F DI CARLI · 2010 to 2026
$7.8MUsing genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3MClonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9MEnabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5MGenomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3MAFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1MEicosanoid Profiles as Determinants of HFpEFR01HL140224 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI HO, JENNIFER E · 2018 to 2021
$3.1MThe Association of Metabolic Disease and Pulmonary HypertensionR01HL134893 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI HO, JENNIFER E · 2017 to 2021
$2.9MMedical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS U01 HG011719NHLBI NIH HHS K08 HL159346NHLBI NIH HHS K24 HL105780NHLBI NIH HHS K24 HL153669NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL134893NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL140224NHLBI NIH HHS R01 HL141434NHLBI NIH HHS R01 HL148050NHLBI NIH HHS T32 HL007208NHLBI NIH HHS T32 HL007604NHLBI NIH HHS T32 HL094301NHLBI NIH HHS U54 HL120163
Abstract
Congenital heart diseases often involve maldevelopment of the evolutionarily recent right heart chamber. To gain insight into right heart structure and function, we fine-tuned deep learning models to recognize the right atrium, right ventricle and pulmonary artery, measuring right heart structures in 40,000 individuals from the UK Biobank with magnetic resonance imaging. Genome-wide association studies identified 130 distinct loci associated with at least one right heart measurement, of which 72 were not associated with left heart structures. Loci were found near genes previously linked with congenital heart disease, including NKX2-5, TBX5/TBX3, WNT9B and GATA4. A genome-wide polygenic predictor of right ventricular ejection fraction was associated with incident dilated cardiomyopathy (hazard ratio, 1.33 per standard deviation; P = 7.1 × 10
Indexed as
Cardiomyopathy, DilatedHeart Defects, CongenitalGenome-Wide Association StudyHeartHumansStroke VolumeVentricular Function, Right
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