ArticlePLoS genetics2016
Whole Exome Sequencing in Atrial Fibrillation.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 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.
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.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population.Scientific reports · 2025Pooled it
- Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.Nature genetics · 2025Pooled it
- Atrial Fibrillation Risk Management and Emerging Therapies.Journal of clinical medicine · 2026Review
- Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study.Annals of the rheumatic diseases · 2024Article
- Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.BMC genomics · 2023Article
- Modeling Human Cardiac Arrhythmias: Insights from Zebrafish.Journal of cardiovascular development and disease · 2022Review
- Atrial Fibrillation Genomics: Discovery and Translation.Current cardiology reports · 2021Review
- New biomarkers from multiomics approaches: improving risk prediction of atrial fibrillation.Cardiovascular research · 2021Review
- Risk prediction of atrial fibrillation in the community combining biomarkers and genetics.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 · 2021Article
- Loss-of-Function Variants in theFrontiers in cardiovascular medicine · 2021Article
- The molecular genetic basis of atrial fibrillation.Human genetics · 2020Review
- Review
- Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.American journal of medical genetics. Part A · 2020Article
- Integrative Omics Approach to Identifying Genes Associated With Atrial Fibrillation.Circulation research · 2020Article
- Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.Circulation research · 2020Article
- 70-year legacy of the Framingham Heart Study.Nature reviews. Cardiology · 2019Review
- Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2019Article
- Atrial Fibrillation Genetics Update: Toward Clinical Implementation.Frontiers in cardiovascular medicine · 2019Review
- Whole-exome sequencing reveals microsatellite DNA markers for response to dofetilide initiation in patients with persistent atrial fibrillation: A pilot study.Clinical cardiology · 2018Article
Corrections and comments
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Authors and funding
25 authors at 7 institutions in 2 countries.
Funding
Abstract
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution of coding variation to AF susceptibility remains poorly understood. We examined whole exome sequencing data in a large community-based sample of 1,734 individuals with and 9,423 without AF from the Framingham Heart Study, Cardiovascular Health Study, Atherosclerosis Risk in Communities Study, and NHLBI-GO Exome Sequencing Project and meta-analyzed the results. We also examined whether genetic variation was enriched in suspected AF genes (N = 37) in AF cases versus controls. The mean age ranged from 59 to 73 years; 8,656 (78%) were of European ancestry. None of the 99,404 common variants evaluated was significantly associated after adjusting for multiple testing. Among the most significantly associated variants was a common (allele frequency = 86%) missense variant in SYNPO2L (rs3812629, p.Pro707Leu, [odds ratio 1.27, 95% confidence interval 1.13-1.43, P = 6.6x10-5]) which lies at a known AF susceptibility locus and is in linkage disequilibrium with a top marker from prior analyses at the locus. We did not observe significant associations between rare variants and AF in gene-based tests. Individuals with AF did not display any statistically significant enrichment for common or rare coding variation in previously implicated AF genes. In conclusion, we did not observe associations between coding genetic variants and AF, suggesting that large-effect coding variation is not the predominant mechanism underlying AF. A coding variant in SYNPO2L requires further evaluation to determine whether it is causally related to AF. Efforts to identify biologically meaningful coding variation underlying AF may require large sample sizes or populations enriched for large genetic effects.
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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.