SynthesisEuropean heart journal2022
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
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In one paragraph
Synthesis in European heart journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40citing papers in PubMed
10.3field-weighted citation impact, top 1% of its field
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Who cites it
40 citing papers in PubMed, 66 citations in OpenAlex.
- Arrhythmic Mitral Valve Prolapse as a Regional Stretch-Induced Cardiomyopathy with Fibro-Inflammatory Signature: A Conceptual Review.Journal of cardiovascular development and disease · 2026Review
- Novel Truncating Variant c.1222DupC inCirculation. Genomic and precision medicine · 2026Article
- Clinical utility of polygenic risk scores in cardiovascular disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Utility of genetic screening for the prediction of severe arrhythmic outcomes in mitral valve prolapse.medRxiv : the preprint server for health sciences · 2026Article
- Spatial transcriptomics reveals coordinated ventricular patterning and maturation in the developing human heart.Nature communications · 2026Article
- Prevalence, Genetics, and Imaging Characteristics of Patients with Mitral Valve Prolapse and Arrhythmogenic Right Ventricular Cardiomyopathy.medRxiv : the preprint server for health sciences · 2026Article
- Discovery and characterization of gene-by-environment and epistatic genetic effects in a vertebrate model.Cell genomics · 2026Article
- Identification of disease-associated gene expression signatures for mechanistic insights and drug prediction in dilated cardiomyopathy-induced heart failure.Molecular and cellular biochemistry · 2026Article
- Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026Review
- Multimodality cardiovascular imaging in arrhythmic mitral valve prolapse: a state-of-the-art review from structural assessment to myocardial tissue characterization.Frontiers in cardiovascular medicine · 2026Review
- Floppy Mitral Valve/Mitral Valve Prolapse: Diagnosis and Clinical Classification in This Continuing Odyssey.European cardiology · 2026Review
- Sex-Based Differences in Mitral Annular Disjunction Severity and Arrhythmic Risk in Mitral Valve Prolapse.Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography · 2026Article
- A genetic map of human metabolism across the allele frequency spectrum.Nature genetics · 2025Article
- Phenotyping of Mitral Valve Prolapse Without Severe Mitral Regurgitation Using Electrocardiographic and Echocardiographic Data.JACC. Clinical electrophysiology · 2025Article
- Disproportionate Left Ventricular Enlargement in Mitral Valve Prolapse: Prevalence, Predictors, and Association With Outcomes.Journal of the American Heart Association · 2025Observational
- Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.Genes & genomics · 2025Article
- Knockdown of TGFB2 Attenuates Ischemic Heart Failure by Inhibiting Apoptosis.Cardiovascular toxicology · 2025Article
- Multimodality Imaging of Arrhythmic Risk in Mitral Valve Prolapse.Circulation. Cardiovascular imaging · 2025Review
- Identifying cross-tissue molecular targets of lung function by multi-omics integration analysis from DNA methylation and gene expression of diverse human tissues.BMC genomics · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
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Authors and funding
54 authors at 20 institutions in 5 countries.
Carolina RoselliCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-5267-6756
Mengyao YuUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.
Victor NauffalCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-7199-299X
Adrien GeorgesUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.ORCID 0000-0003-4208-2393
Qiong YangSchool of Public Health, Boston University, Boston, MA, USA.ORCID 0000-0002-3658-1375
Katie LoveCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-4541-1087
Lu-Chen WengCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-1475-4930
Francesca N DellingDivision of Cardiology, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0002-5224-4096
Svetlana R MauryaDepartment of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, København 2200, Denmark.ORCID 0000-0002-4700-2711
Maren SchrölkampDepartment of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, København 2200, Denmark.ORCID 0000-0003-3522-6379
Jacob Tfelt-HansenDepartment of Cardiology, The Heart Centre, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.ORCID 0000-0003-3895-9316
Albert HagègeUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.
Xavier JeunemaitreUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.
Stéphanie DebetteBordeaux Population Health Research Center, Inserm Center U1219, University of Bordeaux, Bordeaux, France.ORCID 0000-0001-8675-7968
Philippe AmouyelUniv. Lille, Inserm, Centre Hosp. Univ Lille, Institut Pasteur de Lille, UMR1167 - RID-AGE- Risk factors and molecular determinants of aging-related diseases, F-59000 Lille, France.ORCID 0000-0001-9088-234X
Wyliena GuanCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-7493-7985
Jochen D MuehlschlegelDepartment of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Boston, MA, USA.ORCID 0000-0002-6209-7253
Simon C BodyDepartment of Anesthesiology, Boston University School of Medicine, Boston, MA, USA.ORCID 0000-0001-6721-7050
Svati ShahDuke Molecular Physiology Institute, Duke University, Durham, NC, USA.ORCID 0000-0002-3495-2830
Zainab SamadDivision of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
Sergiy KyryachenkoUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.ORCID 0000-0002-1249-2351
Carol HaynesDuke Molecular Physiology Institute, Duke University, Durham, NC, USA.ORCID 0000-0001-6769-3292
Michiel RienstraDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0002-2581-070X
Thierry Le Tourneaul'institut du thorax, INSERM, CNRS, Univ Nantes, CHU Nantes, Nantes, France.ORCID 0000-0002-0110-9054
Vincent Probstl'institut du thorax, INSERM, CNRS, Univ Nantes, CHU Nantes, Nantes, France.
Ronan RousselCordeliers Research Centre, ImMeDiab Team, INSERM, Université de Paris, Paris, France.
Inez J Wijdh-Den HamerDepartment of Cardiothoracic Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0001-9466-274X
Joylene E SilandDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0003-4404-1245
Kirk U KnowltonIntermountain Medical Center Heart Institute, Salt Lake City, UT, USA.
Jean Jacques Schottl'institut du thorax, INSERM, CNRS, Univ Nantes, CHU Nantes, Nantes, France.ORCID 0000-0002-9578-9475
Robert A LevineCardiac Ultrasound Laboratory, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-9484-8218
Emelia J BenjaminNational Heart, Lung, and Blood Institute's and Boston University's, The Framingham Heart Study, Framingham, MA, USA.ORCID 0000-0003-4076-2336
Ramachandran S VasanSchool of Public Health, Boston University, Boston, MA, USA.ORCID 0000-0001-7357-5970
Benjamin D HorneIntermountain Medical Center Heart Institute, Salt Lake City, UT, USA.ORCID 0000-0002-2656-0263
Joseph B MuhlesteinIntermountain Medical Center Heart Institute, Salt Lake City, UT, USA.ORCID 0000-0002-3366-9857
Giovanni BenfariDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-5660-6162
Maurice Enriquez-SaranoDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-0910-5450
Andrea NataleTexas Cardiac Arrhythmia Institute, St David's Medical Center, Austin, TX, USA.
Sanghamitra MohantyTexas Cardiac Arrhythmia Institute, St David's Medical Center, Austin, TX, USA.
Chintan TrivediTexas Cardiac Arrhythmia Institute, St David's Medical Center, Austin, TX, USA.
Moore B ShoemakerDepartment of Medicine, Division of Cardiovascular Diseases, Vanderbilt University Medical Center, Nashville, TN, USA.
Zachary T YonedaDepartment of Medicine, Division of Cardiovascular Diseases, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-2055-732X
Quinn S WellsDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Michael T BakerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-7803-939X
Eric Farber-EgerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-0281-3796
Hector I MichelenaDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Alicia LundbyDepartment of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, København 2200, Denmark.
Russell A NorrisCardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, USA.ORCID 0000-0001-8462-5726
Susan A SlaugenhauptCenter for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
Christian Dinal'institut du thorax, INSERM, CNRS, Univ Nantes, CHU Nantes, Nantes, France.ORCID 0000-0002-7722-7348
Steven A LubitzCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-9599-4866
Nabila Bouatia-NajiUniversité de Paris, PARCC, Inserm, F-75015 Paris, France.ORCID 0000-0001-5424-2134
Patrick T EllinorCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-2067-0533
David J MilanCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Inserm · FRBroad Institute · USVanderbilt University Medical Center · USBoston University · USCentre National de la Recherche Scientifique · FRUniversity of Copenhagen · DKMayo Clinic in Arizona · USSt David's Medical Center · USUniversity Medical Center Groningen · NLDuke University · USHarvard University · USIntermountain Medical Center · USAga Khan University · PKBoston Foundation · USBrigham and Women's Hospital · USMassachusetts General Hospital · USMedical University of South Carolina · USUniversité de Bordeaux · FRUniversity of California, San Francisco · USUniversity of Utah · US
Funding
Targeted Nano-therapeutics for Neural RegenerationP20GM103444 · NIGMS · CLEMSON UNIVERSITY · PI SIMIONESCU, DAN TEODOR · 2012 to 2018
$14.9MCilia and Valvular Heart DiseaseR01HL131546 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2016 to 2025
$4.4MDzip1 and Mitral Valve ProlapseR01HL149696 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2020 to 2023
$2.0MGenetic Determinants and Progression of Mitral Valve ProlapseK23HL116652 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DELLING, FRANCESCA N · 2014 to 2018
$699kSudden cardiac death in mitral valve prolapse: a genotype-phenotype pedigree studyR03HL145238 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DELLING, FRANCESCA N · 2018 to 2019
$160kNHLBI NIH HHS K23 HL116652NHLBI NIH HHS R01 HL131546NHLBI NIH HHS R01 HL149696NHLBI NIH HHS R03 HL145238NIGMS NIH HHS P20 GM103444
Abstract
aimsMitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical therapy is available for this disease. We aimed to elucidate the genetic basis of MVP in order to better understand this complex disorder. METHODS AND
resultsWe performed a meta-analysis of six genome-wide association studies that included 4884 cases and 434 649 controls. We identified 14 loci associated with MVP in our primary analysis and 2 additional loci associated with a subset of the samples that additionally underwent mitral valve surgery. Integration of epigenetic, transcriptional, and proteomic data identified candidate MVP genes including LMCD1, SPTBN1, LTBP2, TGFB2, NMB, and ALPK3. We created a polygenic risk score (PRS) for MVP and showed an improved MVP risk prediction beyond age, sex, and clinical risk factors.
conclusionWe identified 14 genetic loci that are associated with MVP. Multiple analyses identified candidate genes including two transforming growth factor-β signalling molecules and spectrin β. We present the first PRS for MVP that could eventually aid risk stratification of patients for MVP screening in a clinical setting. These findings advance our understanding of this common valvular heart disease and may reveal novel therapeutic targets for intervention.
Indexed as
Mitral Valve ProlapseAdultGenetic LociGenome-Wide Association StudyHumansLatent TGF-beta Binding ProteinsProteomicsRisk FactorsLatent TGF-beta Binding ProteinsLTBP2 protein, humanGenetic correlationGenome-wide association studyMitral valve prolapsePolygenic risk scoreProteomicsRNA-sequencing
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