Arrhythmias & electrophysiologyCase-control study
Identification of a new genetic locus associated with atrial fibrillation in the Taiwanese population by genome-wide and transcriptome-wide association studies
- Genome-wide and transcriptome-wide association study
- multi-stage
- case-control
- replication cohort
Authors' conclusion
Genome-wide association study in Taiwan revealed PITX2 and RAP1A/KCND3 loci and novel AF locus (HNF4G) with the most significant locus in the RAP1A locus.
Study context
- Population
- Taiwanese population; AF cases and normal sinus rhythm controlsreplication: 1002 cases, 2003 controls
- Participants
- 516 vs 5,160
- Comparison
- AF cases vs normal sinus rhythm controls
- AFn = 516
- Controlsn = 5,160reference
- Outcome
- SNP loci associated with AF at genome-wide significance
Main finding
As reported in the abstract
Stage I GWAS loci associated with AF (MAF cases vs controls)
PITX2 locus (4q25, rs2723329), MAF 0.50 vs. 0.41
P = 1.53 × 10-10
RAP1A locus (also KCND3; 1p13.2, rs7525578), MAF 0.17 vs. 0.07
P = 1.24 × 10-26
Novel HNF4G locus (8q21.13, rs2980218), MAF 0.44 vs. 0.35
P = 2.19 × 10-9
Observational data: associations, not effects.
Further findings
Expression quantitative trait locus (eQTL) colocalization
- Significant colocalization of 1p13.2 locus with RAP1A expression in fibroblasts and 8q21.13 locus with HNF4G expression in lymphocytes
Transcriptome-wide association study (TWAS)
- Significant association with AF of RAP1A expression in fibroblasts and HNF4G in lymphocytes and brain
Original publication
Identification of a new genetic locus associated with atrial fibrillation in the Taiwanese population by genome-wide and transcriptome-wide association studies. Europace. Published 28 February 2025. doi:10.1093/europace/euaf042
Summarised from the published abstract; every number is checked against it