Evidence map›Paper›PMID 34461747›Full record

SynthesisCirculation. Genomic and precision medicine2021

Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse.

Mengyao Yu, Sergiy Kyryachenko, Stephanie Debette, Philippe Amouyel, Jean-Jacques Schott, Thierry Le Tourneau, Christian Dina, Russell A Norris, Albert A Hagège, Xavier Jeunemaitre and 1 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.7field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 17 citations in OpenAlex.

  1. Recent advances in omics-based research of mitral valve disease.Frontiers in cardiovascular medicine · 2026
    Review
  2. Mechanisms of mitral valve development and disease.Frontiers in cardiovascular medicine · 2026
    Review
  3. Review
  4. Review
  5. Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024
    Review
  6. Review
  7. Genetics and pathophysiology of mitral valve prolapse.Frontiers in cardiovascular medicine · 2023
    Review
  8. Review
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 2 countries.

Mengyao YuPARCC, Inserm, Université de Paris, F-75015, Paris, France (M.Y., S.K., X.J., N.B.-N.).ORCID 0000-0002-5346-535X
Sergiy KyryachenkoPARCC, Inserm, Université de Paris, F-75015, Paris, France (M.Y., S.K., X.J., N.B.-N.).ORCID 0000-0002-1249-2351
Stephanie DebetteBordeaux Population Health Research Center, Inserm Center U1219, University of Bordeaux, France (S.D.).ORCID 0000-0001-8675-7968
Philippe AmouyelUniversity of Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Labex DISTALZ - Risk Factors and Molecular Determinants of Aging-Related Disease, Lille, France (P.A.).ORCID 0000-0001-9088-234X
Jean-Jacques SchottUniversité de Nantes, INSERM, CNRS, CHU Nantes, l'institut du thorax, F-44000, France (J.-J.S., T.L.T., C.D.).
Thierry Le TourneauUniversité de Nantes, INSERM, CNRS, CHU Nantes, l'institut du thorax, F-44000, France (J.-J.S., T.L.T., C.D.).ORCID 0000-0002-0110-9054
Christian DinaUniversité de Nantes, INSERM, CNRS, CHU Nantes, l'institut du thorax, F-44000, France (J.-J.S., T.L.T., C.D.).ORCID 0000-0002-7722-7348
Russell A NorrisDepartment of Regenerative Medicine and Cell Biology (R.A.N.), Medical University of South Carolina, Charleston, SC.ORCID 0000-0001-8462-5726
Albert A HagègeAssistance Publique - Hôpitaux de Paris, Department of Cardiology, Hôpital Européen Georges Pompidou, France (A.A.H.).ORCID 0000-0003-4685-6077
Xavier JeunemaitrePARCC, Inserm, Université de Paris, F-75015, Paris, France (M.Y., S.K., X.J., N.B.-N.).
Nabila Bouatia-NajiPARCC, Inserm, Université de Paris, F-75015, Paris, France (M.Y., S.K., X.J., N.B.-N.).ORCID 0000-0001-5424-2134
Inserm · FRCentre National de la Recherche Scientifique · FRHôpital Européen · FRMedical University of South Carolina · USUniversité de Bordeaux · FR

Funding

Targeted Nano-therapeutics for Neural RegenerationP20GM103444 · NIGMS · CLEMSON UNIVERSITY · PI MARKWALD, ROGER R, VYAVAHARE, NAREN R · 2012 to 2018
$14.9M
Cilia and Valvular Heart DiseaseR01HL131546 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2016 to 2025
$4.4M
Genetics and Mechanisms of Mitral Valve ProlapseR01HL127692 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI MILAN, DAVID J, SLAUGENHAUPT, SUSAN A · 2015 to 2018
$3.0M
Dzip1 and Mitral Valve ProlapseR01HL149696 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2020 to 2023
$2.0M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHLBI NIH HHS R01 HL127692NHLBI NIH HHS R01 HL131546NHLBI NIH HHS R01 HL149696NIGMS NIH HHS P20 GM103444
6 · The paper itself

Abstract

backgroundMitral valve prolapse (MVP) is a common cardiac valve disease, which affects 1 in 40 in the general population. Previous genome-wide association study has identified 6 risk loci for MVP. But these loci explained only partially the genetic risk for MVP. We aim to identify additional risk loci for MVP by adding data set from the UK Biobank.

methodsWe also incorporated 434 MVP cases and 4527 controls from the UK Biobank for discovery analyses. Genetic association was conducted using SNPTEST and meta-analyses using METAL. We used Functional Mapping and Annotation of Genome-Wide Association Studies for post-genome-wide association study annotations and Multi-marker Analysis of GenoMic Annotation for gene-based and gene-set analyses.

resultsWe found Trans-Omics for Precision Medicine imputation to perform better in terms of accuracy in the lower ranges of minor allele frequency below 0.1. Our updated meta-analysis included UK Biobank study for ≈8 million common single-nucleotide polymorphisms (minor allele frequency >0.01) and replicated the association on Chr2 as the top association signal near

conclusionsWe report an updated meta-analysis genome-wide association study for MVP using dense imputation coverage and an improved case-control sample. We describe several loci and genes with MVP spanning biological mechanisms highly relevant to MVP, especially during valve and heart development.

Indexed as

Genetic LociPolymorphism, Single NucleotideBiological Specimen BanksFemaleGenome-Wide Association StudyHumansMaleMitral Valve ProlapseUnited Kingdomassociationcomputational biologyheart valve diseasesmeta-analysismitral valve prolapse

Identifiers

PMID34461747
PMCPMC8530910
OpenAlexW3197069832

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.