ArticleJournal of the American College of Cardiology2017
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
Article in Journal of the American College of Cardiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 6 of them syntheses that pooled it.
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Who cites it
55 citing papers in PubMed, 6 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.Nature communications · 2025Pooled it
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.Nature communications · 2020Pooled it
- Association BetweenFrontiers in cardiovascular medicine · 2020Pooled it
- PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.Nature communications · 2018Pooled it
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- The Role of Next-Generation Sequencing in the Management of Asymptomatic, Young Slovenian Athletes for Distinction Between Athlete's Heart and Cardiomyopathy.Biomedicines · 2026Article
- Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillation.Research square · 2026Article
- Exploration of candidate genes associated with rare SNVs in pulmonary stenosis using whole-exome sequencing and machine learning.Frontiers in genetics · 2026Article
- Shared genetic associations between CHAInternational journal of cardiology. Cardiovascular risk and prevention · 2025Article
- Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk.Circulation. Genomic and precision medicine · 2025Article
- Lysine 2-hydroxyisobutyrylation of HXK1 alters energy metabolism and KCell communication and signaling : CCS · 2025Article
- Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.Nature communications · 2024Article
- Identification ofAnimal biotechnology · 2024Article
- Fine mapping of candidate effector genes for heart rate.Human genetics · 2024Article
- Advancing drug development for atrial fibrillation by prioritising findings from human genetic association studies.EBioMedicine · 2024Article
- Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.JACC. Basic to translational science · 2024Review
- Pathophysiology and clinical relevance of atrial myopathy.Basic research in cardiology · 2024Review
- Current RNA strategies in treating cardiovascular diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- [Genetic basis of atrial fibrillation-on the road to precision medicine].Herzschrittmachertherapie & Elektrophysiologie · 2024Review
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19 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundGenome-wide association studies (GWAS) have yielded variants at >30 loci that associate with atrial fibrillation (AF), including rare coding mutations in the sarcomere genes MYH6 and MYL4.
objectivesThe aim of this study was to search for novel AF associations and in doing so gain insights into the mechanisms whereby variants affect AF risk, using electrocardiogram (ECG) measurements.
methodsThe authors performed a GWAS of 14,255 AF cases and 374,939 controls, using whole-genome sequence data from the Icelandic population, and tested novel signals in 2,002 non-Icelandic cases and 12,324 controls. They then tested the AF variants for effect on cardiac electrical function by using measurements in 289,297 ECGs from 62,974 individuals.
resultsThe authors discovered 2 novel AF variants, the intergenic variant rs72700114, between the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p = 3.1 × 10
conclusionsThe discovery of a missense variant in PLEC affecting AF combined with recent discoveries of variants in the sarcomere genes MYH6 and MYL4 points to an important role of myocardial structure in the pathogenesis of the disease. The diverse associations between AF variants and ECG measurements suggest fundamentally different categories of mechanisms contributing to the development of AF.
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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.