ArticleNature genetics2011
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 173 papers, 13 of them syntheses that pooled it.
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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.
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Who cites it
173 citing papers in PubMed, 13 syntheses or guidelines pooled it, 301 citations in OpenAlex.
- Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.Nature genetics · 2025Pooled it
- Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.Circulation. Genomic and precision medicine · 2023Pooled it
- Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.Circulation. Genomic and precision medicine · 2020Pooled it
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.Nature communications · 2020Pooled it
- Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.Communications biology · 2020Pooled it
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.Circulation. Cardiovascular genetics · 2017Pooled it
- Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.Nature genetics · 2017Pooled it
- Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.Nature communications · 2015Pooled it
- Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment.Molecular psychiatry · 2013Pooled it
- Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.PLoS genetics · 2013Pooled it
- Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.Nature genetics · 2013Pooled it
- Post-genomic update on a classical candidate gene for coronary artery disease: ESR1.Circulation. Cardiovascular genetics · 2011Pooled 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
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Mechanistic Pathways Underlying Genetic Predisposition to Atrial Fibrillation Are Associated With Different Cardiac Phenotypes and Cardioembolic Stroke Risk.Circulation. Genomic and precision medicine · 2025Article
- Article
- The impact of common and rare genetic variants on bradyarrhythmia development.Nature genetics · 2025Article
- Increased pacemaker implantation and mortality rates in relatives of patients with early-onset sinus node dysfunction: can genetics explain all?Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2024Article
- Familial risk of sinus node dysfunction indicating pacemaker implantation: a nationwide cohort study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2024Article
113 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 7 institutions in 4 countries.
Funding
Abstract
Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10⁻²⁹. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.
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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.