SynthesisJAMA2009
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
Synthesis in JAMA, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 10 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
134 citing papers in PubMed, 10 syntheses or guidelines pooled it.
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.Nature genetics · 2022Pooled it
- Aptamer-Based Proteomic Platform Identifies Novel Protein Predictors of Incident Heart Failure and Echocardiographic Traits.Circulation. Heart failure · 2020Pooled it
- Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.Nature genetics · 2016Pooled it
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.Nature communications · 2016Pooled it
- Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes.Circulation. Cardiovascular genetics · 2015Pooled it
- Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis.Cardiovascular diabetology · 2013Pooled it
- Meta-analysis identifies six new susceptibility loci for atrial fibrillation.Nature genetics · 2012Pooled it
- Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure.PLoS genetics · 2012Pooled it
- Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.Nature genetics · 2010Pooled it
- Effect of Testosterone on Natriuretic Peptide Levels.Journal of the American College of Cardiology · 2019Trial
- Trial
- Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.The Journal of clinical investigation · 2017Trial
- Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle.Circulation · 2011Trial
- Uncovering Novel Atrial Fibrillation Genetics Through Pleiotropic Overlap with Life's Essential 8.Biomedicines · 2026Article
- Ventricular cardiac magnetic resonance traits and schizophrenia risk: a UK Biobank and Mendelian randomization study.Frontiers in psychiatry · 2026Article
- Article
- Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.medRxiv : the preprint server for health sciences · 2024Article
- Broadening Perspectives of Artificial Intelligence in Echocardiography.Cardiology and therapy · 2024Review
- Using Omics to Identify Novel Therapeutic Targets in Heart Failure.Circulation. Genomic and precision medicine · 2024Review
74 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
69 authors.
Funding
Abstract
contextEchocardiographic measures of left ventricular (LV) structure and function are heritable phenotypes of cardiovascular disease.
objectiveTo identify common genetic variants associated with cardiac structure and function by conducting a meta-analysis of genome-wide association data in 5 population-based cohort studies (stage 1) with replication (stage 2) in 2 other community-based samples. DESIGN, SETTING, AND
participantsWithin each of 5 community-based cohorts comprising the EchoGen consortium (stage 1; n = 12 612 individuals of European ancestry; 55% women, aged 26-95 years; examinations between 1978-2008), we estimated the association between approximately 2.5 million single-nucleotide polymorphisms (SNPs; imputed to the HapMap CEU panel) and echocardiographic traits. In stage 2, SNPs significantly associated with traits in stage 1 were tested for association in 2 other cohorts (n = 4094 people of European ancestry). Using a prespecified P value threshold of 5 x 10(-7) to indicate genome-wide significance, we performed an inverse variance-weighted fixed-effects meta-analysis of genome-wide association data from each cohort.
main outcome measuresEchocardiographic traits: LV mass, internal dimensions, wall thickness, systolic dysfunction, aortic root, and left atrial size.
resultsIn stage 1, 16 genetic loci were associated with 5 echocardiographic traits: 1 each with LV internal dimensions and systolic dysfunction, 3 each with LV mass and wall thickness, and 8 with aortic root size. In stage 2, 5 loci replicated (6q22 locus associated with LV diastolic dimensions, explaining <1% of trait variance; 5q23, 12p12, 12q14, and 17p13 associated with aortic root size, explaining 1%-3% of trait variance).
conclusionsWe identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance. Further studies are required to replicate these findings, identify the causal variants at or near these loci, characterize their functional significance, and determine whether they are related to overt cardiovascular disease.
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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.