ArticlePloS one2014
Atrial Fibrillation associated chromosome 4q25 variants are not associated with PITX2c expression in human adult left atrial appendages.
Article in PloS one, 2014. 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, 60 citations in OpenAlex.
- Reduced left atrial cardiomyocyte PITX2 and elevated circulating BMP10 predict atrial fibrillation after ablation.JCI insight · 2020Trial
- Post-operative atrial fibrillation examined using whole-genome RNA sequencing in human left atrial tissue.BMC medical genomics · 2017Trial
- Multiple 4q25 risk variants impair calcium homeostasis and compromise left atrial function.Cardiovascular research · 2026Article
- PITX2 dosage-dependent changes in pacemaker cell state underlie sinus node dysfunction and atrial arrhythmias.Nature communications · 2025Article
- Single-Nucleotide Polymorphisms,International journal of molecular sciences · 2025Review
- CommonCirculation. Genomic and precision medicine · 2024Article
- Atrial fibrillation: pathophysiology, genetic and epigenetic mechanisms.The Lancet regional health. Europe · 2024Review
- Genetic and Molecular Underpinnings of Atrial Fibrillation.NPJ cardiovascular health · 2024Article
- Novel functional atrial fibrillation risk genes and pathways identified from coexpression analyses in human left atria.Heart rhythm · 2023Article
- Mechanisms underlying pro-arrhythmic abnormalities arising from Pitx2-induced electrical remodelling: an in silico intersubject variability study.Annals of translational medicine · 2021Article
- Review
- PITX2 upregulation increases the risk of chronic atrial fibrillation in a dose-dependent manner by modulatingAnnals of translational medicine · 2020Article
- The 4q25 variant rs13143308T links risk of atrial fibrillation to defective calcium homoeostasis.Cardiovascular research · 2019Article
- Pterostilbene Attenuates Fructose-Induced Myocardial Fibrosis by Inhibiting ROS-Driven Pitx2c/miR-15b Pathway.Oxidative medicine and cellular longevity · 2019Article
- Proarrhythmia in the p.Met207Val PITX2c-Linked Familial Atrial Fibrillation-Insights From Modeling.Frontiers in physiology · 2019Article
- Chromosome 4q25 Variant rs6817105 Bring Sinus Node Dysfunction and Left Atrial Enlargement.Scientific reports · 2018Article
- Interplay between cardiac transcription factors and non-coding RNAs in predisposing to atrial fibrillation.Journal of molecular medicine (Berlin, Germany) · 2018Review
- Genetic Control of Left Atrial Gene Expression Yields Insights into the Genetic Susceptibility for Atrial Fibrillation.Circulation. Genomic and precision medicine · 2018Article
- Chromosome 4q25 Variants and Age at Onset of Ischemic Stroke.Molecular neurobiology · 2017Article
- PITX2-dependent gene regulation in atrial fibrillation and rhythm control.The Journal of physiology · 2017Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Atrial Fibrillation (AF), the most common sustained arrhythmia, has a strong genetic component, but the mechanism by which common genetic variants lead to increased AF susceptibility is unknown. Genome-wide association studies (GWAS) have identified that the single nucleotide polymorphisms (SNPs) most strongly associated with AF are located on chromosome 4q25 in an intergenic region distal to the PITX2 gene. Our objective was to determine whether the AF-associated SNPs on chromosome 4q25 were associated with PITX2c expression in adult human left atrial appendages. Analysis of a lone AF GWAS identified four independent AF risk SNPs at chromosome 4q25. Human adult left atrial appendage tissue was obtained from 239 subjects of European Ancestry and used for SNP analysis of genomic DNA and determination of PITX2c RNA expression levels by quantitative PCR. Subjects were divided into three groups based on their history of AF and pre-operative rhythm. AF rhythm subjects had higher PITX2c expression than those with history of AF but in sinus rhythm. PITX2c expression was not associated with the AF risk SNPs in human adult left atrial appendages in all subjects combined or in each of the three subgroups. However, we identified seven SNPs modestly associated with PITX2c expression located in the introns of the ENPEP gene, ∼54 kb proximal to PITX2. PITX2c expression in human adult left atrial appendages is not associated with the chromosome 4q25 AF risk SNPs; thus, the mechanism by which these SNPs are associated with AF remains enigmatic.
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