Trial reportCirculation2013
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
Trial report in Circulation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05277116 (The Electronic Medical Records and GEnomics), which is not on this map. Cited by 123 papers, 2 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.
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
Who cites it
123 citing papers in PubMed, 2 syntheses or guidelines pooled it, 182 citations in OpenAlex.
- GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.Scientific reports · 2017Pooled it
- Genetic Overlap Between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence From Genome-wide Association Study Meta-analysis.Biological psychiatry · 2017Pooled it
- Genome-wide association study of heart rate and its variability in Hispanic/Latino cohorts.Heart rhythm · 2017Trial
- Common and rare variants in SCN10A modulate the risk of atrial fibrillation.Circulation. Cardiovascular genetics · 2015Trial
- The cardiac conduction system: development, function and therapeutic targets.Nature reviews. Cardiology · 2026Review
- A self-supervised electrocardiogram foundation model for empowering cardiovascular disease prediction and genetic factor discovery.Nature communications · 2026Article
- Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025Review
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- NaInternational journal of molecular sciences · 2024Article
- Volumetric brain MRI signatures of heart failure with preserved ejection fraction in the setting of dementia.Magnetic resonance imaging · 2024Article
- Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) and their application in more than 22,000 pregnant women.Scientific reports · 2024Article
- Heterologous expression of the human wild-type and variant NaNeurogastroenterology and motility · 2024Article
- Lymphocyte Count Derived Polygenic Score and Interindividual Variability in CD4 T-cell Recovery in Response to Antiretroviral Therapy.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2024Article
- Cardiovascular Care Innovation through Data-Driven Discoveries in the Electronic Health Record.The American journal of cardiology · 2023Review
- Molecular and Functional Relevance of NaInternational journal of molecular sciences · 2023Article
- Patient-specific comorbidities as prognostic variables for survival in myelofibrosis.Blood advances · 2023Article
- Evaluating resources composing the PheMAP knowledge base to enhance high-throughput phenotyping.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Genetic architecture of heart failure with preserved versus reduced ejection fraction.Nature communications · 2022Article
- Interatrial Block Predicts Life-Threatening Arrhythmias in Dilated Cardiomyopathy.Journal of the American Heart Association · 2022Article
- Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.Nature communications · 2022Article
63 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
28 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundECG QRS duration, a measure of cardiac intraventricular conduction, varies ≈2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant arrhythmias. METHODS AND
resultsWe performed a genome-wide association study to identify genomic markers of QRS duration in 5272 individuals without cardiac disease selected from electronic medical record algorithms at 5 sites in the Electronic Medical Records and Genomics (eMERGE) network. The most significant loci were evaluated within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium QRS genome-wide association study meta-analysis. Twenty-three single-nucleotide polymorphisms in 5 loci, previously described by CHARGE, were replicated in the eMERGE samples; 18 single-nucleotide polymorphisms were in the chromosome 3 SCN5A and SCN10A loci, where the most significant single-nucleotide polymorphisms were rs1805126 in SCN5A with P=1.2×10(-8) (eMERGE) and P=2.5×10(-20) (CHARGE) and rs6795970 in SCN10A with P=6×10(-6) (eMERGE) and P=5×10(-27) (CHARGE). The other loci were in NFIA, near CDKN1A, and near C6orf204. We then performed phenome-wide association studies on variants in these 5 loci in 13859 European Americans to search for diagnoses associated with these markers. Phenome-wide association study identified atrial fibrillation and cardiac arrhythmias as the most common associated diagnoses with SCN10A and SCN5A variants. SCN10A variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 "heart-healthy" study population.
conclusionsWe conclude that DNA biobanks coupled to electronic medical records not only provide a platform for genome-wide association study but also may allow broad interrogation of the longitudinal incidence of disease associated with genetic variants. The phenome-wide association study approach implicated sodium channel variants modulating QRS duration in subjects without cardiac disease as predictors of subsequent arrhythmias.
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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.