ArticleCardiovascular research2016
TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Article in Cardiovascular research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 49 citations in OpenAlex.
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- THSD7A Exacerbates Atherosclerosis via Activation of Signaling Axis αvβ3/CEBPD/IL1A.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Rare TruncatingGenes · 2026Article
- Reduced TBX5 dosage undermines developmental control of atrial cardiomyocyte identity in a model of human atrial disease.Development (Cambridge, England) · 2026Article
- Gene Therapy for Inherited Cardiac Arrhythmias.Journal of cardiovascular translational research · 2025Review
- Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.Global medical genetics · 2025Article
- Animal and cellular models of atrial fibrillation: a review.Frontiers in cardiovascular medicine · 2025Review
- Genetics, transcriptomics, metagenomics, and metabolomics in the pathogenesis and prediction of atrial fibrillation.European heart journal supplements : journal of the European Society of Cardiology · 2024Article
- Discovery ofBiology · 2023Article
- Nr2f1a maintains atrialeLife · 2023Article
- Advanced Glycation End Products Downregulate Connexin 43 and Connexin 40 in Diabetic Atrial Myocytes via the AMPK Pathway.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Article
- Genetics of atrial fibrillation-an update of recent findings.Molecular biology reports · 2022Review
- Article
- Review
- The Atrium in Atrial Fibrillation - A Clinical Review on How to Manage Atrial Fibrotic Substrates.Frontiers in cardiovascular medicine · 2022Review
- The Effects of Single Nucleotide Polymorphisms in Korean Patients with Early-onset Atrial Fibrillation after Catheter Ablation.Journal of Korean medical science · 2020Article
- Inward Rectifier KJournal of the American Heart Association · 2020Article
- miR-182-5p is an evolutionarily conserved Tbx5 effector that impacts cardiac development and electrical activity in zebrafish.Cellular and molecular life sciences : CMLS · 2020Article
- Genetics of Atrial Fibrillation in 2020: GWAS, Genome Sequencing, Polygenic Risk, and Beyond.Circulation research · 2020Review
- A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.Genetics and molecular biology · 2020Article
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Authors and funding
21 authors at 8 institutions in 2 countries.
Funding
Abstract
aimsAtrial fibrillation (AF) is a common arrhythmia with an important heritable aspect. The genetic factors underlying AF have not been fully elucidated. METHODS AND
resultsWe screened six candidate genes (CAV1, KCNJ2, KCNQ1, NKX2.5, PITX2, and TBX5) for novel mutations in 139 patients of Chinese descent with early-onset AF and 576 controls. Four missense TBX5 mutations, p.R355C, p.Q376R, p.A428S, and p.S372L, were identified in evolutionarily conserved regions. We did not find any mutations in CAV1, KCNJ2, KCNQ1, NKX2.5, and PITX2. These mutations increased the expression of atrial natriuretic peptide (ANP) and connexin-40 (CX40) in the primarily cultured rat atrial myocytes but did not alter the expression of cardiac structural genes, atrial myosin heavy chain-α (MHC-α) and myosin light chain-2α (MLC-2α). Overexpression of p.R355C developed an atrial arrhythmia suggestive of paroxysmal AF in the zebrafish model. To replicate our findings, we screened TBX5 in 527 early-onset AF cases from the Massachusetts General Hospital AF study. A novel TBX5 deletion (ΔAsp118, p.D118del) was identified, while no TBX5 mutations were identified in 1176 control subjects.
conclusionOur results provide both genetic and functional evidence to support the contribution of TBX5 gene in the pathogenesis of AF. The potential mechanism of arrhythmia may be due in part to the disturbed expression of ANP and CX40.
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