Trial reportThe Journal of clinical investigation2017
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.
Trial report in The Journal of clinical investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 7 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
79 citing papers in PubMed, 7 syntheses or guidelines pooled it, 138 citations in OpenAlex.
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.Nature genetics · 2022Pooled it
- Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.Stroke · 2020Pooled it
- Aptamer-Based Proteomic Platform Identifies Novel Protein Predictors of Incident Heart Failure and Echocardiographic Traits.Circulation. Heart failure · 2020Pooled it
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.Nature communications · 2020Pooled it
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- Cardiac lymphatic dysfunction and repair in cardiovascular disease.Nature reviews. Cardiology · 2026Review
- Artificial intelligence-enhanced electrocardiography for the prediction of future type 2 diabetes mellitus: a model-development and multicentre validation study.European heart journal. Digital health · 2026Article
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Review
- Inferring Patterns of Purifying, Positive, and Balancing Selection in the Coppery Titi Monkey (Plecturocebus cupreus) Utilizing a Well-Fit Evolutionary Baseline Model.Genome biology and evolution · 2026Article
- Right and Left Atrial Dysfunction as Independent Cardiovascular Risk Factors: A UK Biobank Study.Circulation. Arrhythmia and electrophysiology · 2026Article
- Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.Nature genetics · 2026Article
- From Normal Variation in Sleep to Clinical Sleep Disorders: Genetic Insights from Over One Million Individuals.medRxiv : the preprint server for health sciences · 2025Article
- Derivation of ultrasound and electrocardiogram cardiac reference ranges for Mus musculus using the collaborative cross and identification of new cardiac models.BMC cardiovascular disorders · 2025Article
- Association Analysis Between Ischemic Stroke Risk Single Nucleotide Polymorphisms and Alzheimer's Disease.Bioengineering (Basel, Switzerland) · 2025Article
- Atrial Cardiomyopathy in Atrial Fibrillation: A Multimodal Diagnostic Framework.Diagnostics (Basel, Switzerland) · 2025Review
- Differential effects of Mediterranean vs. Western diets on coronary atherosclerosis and peripheral artery transcriptomics.Frontiers in nutrition · 2025Article
- 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
19 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
124 authors at 20 institutions in 12 countries.
Funding
Abstract
backgroundUnderstanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function.
methodsA GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function.
resultsThe discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication was performed in 5 cohorts (n = 14,321) and 6 cohorts (n = 16,308), respectively. Besides 5 previously reported loci, the combined meta-analysis identified 10 additional genome-wide significant SNPs: rs12541595 near MTSS1 and rs10774625 in ATXN2 for LV end-diastolic internal dimension; rs806322 near KCNRG, rs4765663 in CACNA1C, rs6702619 near PALMD, rs7127129 in TMEM16A, rs11207426 near FGGY, rs17608766 in GOSR2, and rs17696696 in CFDP1 for aortic root diameter; and rs12440869 in IQCH for Doppler transmitral A-wave peak velocity. Findings were in part validated in other cohorts and in GWAS of related disease traits. The genetic loci showed associations with putative signaling pathways, and with gene expression in whole blood, monocytes, and myocardial tissue.
conclusionThe additional genetic loci identified in this large meta-analysis of cardiac structure and function provide insights into the underlying genetic architecture of cardiac structure and warrant follow-up in future functional studies.
fundingFor detailed information per study, see Acknowledgments.
Indexed as
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What OpenQuestion holds
Registered trials
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.