ArticleClinics (Sao Paulo, Brazil)2012
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation.
Article in Clinics (Sao Paulo, Brazil), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- NovelBiomedicines · 2026Article
- Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.International journal of molecular sciences · 2025Article
- Discovery ofBiology · 2023Article
- Genetic and non-genetic risk factors associated with atrial fibrillation.Life sciences · 2022Review
- A Combined HumanFrontiers in pharmacology · 2022Article
- Genetic basis of atrial fibrillation.Genes & diseases · 2016Review
- GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.Molecular genetics & genomic medicine · 2016Article
- Genetics of atrial fibrillation: from families to genomes.Journal of human genetics · 2016Review
- Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.Arrhythmia & electrophysiology review · 2014Article
- Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.Pediatric research · 2014Article
- Emerging directions in the genetics of atrial fibrillation.Circulation research · 2014Review
- Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.International journal of medical sciences · 2014Article
- PITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation.Clinics (Sao Paulo, Brazil) · 2014Article
- Angiotensin-converting enzyme gene 2350 G/A polymorphism and susceptibility to atrial fibrillation in Han Chinese patients with essential hypertension.Clinics (Sao Paulo, Brazil) · 2013Article
- Genetic mechanisms of atrial fibrillation: impact on response to treatment.Nature reviews. Cardiology · 2013Review
- Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation.Clinics (Sao Paulo, Brazil) · 2013Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study aimed to identify novel GATA5 mutations that underlie familial atrial fibrillation.
methodsA total of 110 unrelated patients with familial atrial fibrillation and 200 unrelated, ethnically matched healthy controls were recruited. The entire coding region of the GATA5 gene was sequenced in 110 atrial fibrillation probands. The available relatives of the mutation carriers and 200 controls were subsequently genotyped for the identified mutations. The functional effect of the mutated GATA5 was characterized using a luciferase reporter assay system.
resultsTwo novel heterozygous GATA5 mutations (p.Y138F and p.C210G) were identified in two of the 110 unrelated atrial fibrillation families. These missense mutations cosegregated with AF in the families and were absent in the 400 control chromosomes. A cross-species alignment of GATA5 protein sequence showed that the altered amino acids were completely conserved evolutionarily. A functional analysis revealed that the mutant GATA5 proteins were associated with significantly decreased transcriptional activation when compared with their wild-type counterpart.
conclusionThe findings expand the spectrum of GATA5 mutations linked to AF and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation, suggesting potential implications for the early prophylaxis and personalized treatment of this common arrhythmia.
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