ArticleHeart rhythm2009
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.
Article in Heart rhythm, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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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
49 citing papers in PubMed, 102 citations in OpenAlex.
- Review
- Review
- aTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS 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
- Mutation-Specific Differences in Kv7.1 (International journal of molecular sciences · 2022Review
- Genetic and non-genetic risk factors associated with atrial fibrillation.Life sciences · 2022Review
- Review
- Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.Frontiers in physiology · 2021Article
- Genetics and Epigenetics of Atrial Fibrillation.International journal of molecular sciences · 2020Review
- A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.PLoS computational biology · 2020Article
- Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.Circulation research · 2020Article
- The Genetic Puzzle of Familial Atrial Fibrillation.Frontiers in cardiovascular medicine · 2020Review
- Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.Frontiers in physiology · 2019Article
- Genetics of Atrial Fibrillation.Journal of the American Heart Association · 2018Review
- Mechanisms and Drug Development in Atrial Fibrillation.Pharmacological reviews · 2018Review
- Human Atrial Arrhythmogenesis and Sinus Bradycardia inFrontiers in physiology · 2018Article
- Genotype influence in responses to therapy for atrial fibrillation.Expert review of cardiovascular therapy · 2016Review
- Cardiac Delayed Rectifier Potassium Channels in Health and Disease.Cardiac electrophysiology clinics · 2016Review
- Genomics of Atrial Fibrillation.Current cardiology reports · 2016Review
- The Role of Pharmacogenetics in Atrial Fibrillation Therapeutics: Is Personalized Therapy in Sight?Journal of cardiovascular pharmacology · 2016Review
- Genetics of atrial fibrillation: from families to genomes.Journal of human genetics · 2016Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundMutations in several ion channel genes have been reported to cause rare cases of familial atrial fibrillation (AF).
objectiveThe purpose of this study was to determine the genetic basis for AF in a family with autosomal dominant AF.
methodsFamily members were evaluated by 12-lead ECG, echocardiogram, signal-averaged P-wave analysis, and laboratory studies. Fourteen family members in AF-324 were studied. Six individuals had AF, with a mean age at onset of 32 years (range 16-59 years).
resultsCompared with unaffected family members, those with AF had a longer mean QRS duration (100 vs 86 ms, P = .015) but no difference in the corrected QT interval (423 +/- 15 ms vs 421 +/- 21 ms). The known loci for AF and other cardiovascular diseases were evaluated. Evidence of linkage was obtained with marker D11S4088 located within KCNQ1, and a highly conserved serine in the third transmembrane region was found to be mutated to a proline (S209P). Compared to the wild-type channel, the S209P mutant activates more rapidly, deactivates more slowly, and has a hyperpolarizing shift in the voltage activation curve. A fraction of the mutant channels are constitutively open at all voltages, resulting in a net increase in I(Ks) current.
conclusionWe identified a family with lone AF due to a mutation in the highly conserved S3 domain of KCNQ1, a region of the channel not previously implicated in the pathogenesis 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.