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Updated: Jul 13, 2025

Estimating Bilateral Atrial Function by Cardiovascular Magnetic Resonance Feature Tracking in Patients with Paroxysmal Atrial Fibrillation
Published on: July 20, 2022
Risk stratification of atrial fibrillation and stroke using single nucleotide polymorphism and circulating biomarkers
Tetsuo Sasano1, Kensuke Ihara2, Toshihiro Tanaka3,4
1Department of Cardiovascular Medicine, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Insights
Genetic risk scores can help assess atrial fibrillation (AF) risk. Plasma cell-free DNA (cfDNA) levels may predict stroke risk in patients with AF.
Area of Science:
- Cardiology
- Genetics
- Biomarkers
Background:
- Atrial fibrillation (AF) is a common arrhythmia linked to stroke.
- Paroxysmal AF (PAF) progression to persistent AF can be difficult to detect before stroke.
- Identifying individuals at risk for PAF and stroke is crucial.
Purpose of the Study:
- To evaluate the risk of PAF using genetic analysis.
- To assess stroke risk through circulating biomarkers.
- To investigate the association between genetic variations, biomarkers, and AF/stroke.
Main Methods:
- Analyzed 10 single nucleotide polymorphisms (SNPs) and quantified 4 microRNAs (miRNAs) in 600 subjects (300 PAF, 300 controls).
- Measured circulating cell-free DNA (cfDNA) levels in plasma.
- Utilized quantitative RT-PCR for miRNA quantification and genotyping for SNPs.
Main Results:
- Identified 4 SNPs significantly associated with AF; a genetic risk score showed an AUC of 0.631.
- No significant differences in circulating miRNAs or cfDNA between PAF and control groups.
- Elevated plasma cfDNA levels were significantly associated with a history of stroke (AUC 0.950).
Conclusions:
- A genetic risk score can assess the risk of AF.
- Plasma cfDNA levels may serve as a potential biomarker for evaluating stroke risk.
Background:
Atrial fibrillation (AF) is the most common sustained arrhythmia, and it causes a high rate of complications such as stroke. It is known that AF begins as paroxysmal form and gradually progresses to persistent form, and sometimes it is difficult to identify paroxysmal AF (PAF) before having stroke. The aim of this study is to evaluate the risk of PAF and stroke using genetic analysis and circulating biomarkers.
Materials And Methods:
A total of 600 adult subjects were enrolled (300 from PAF and control groups). Peripheral blood was drawn to identify the genetic variation and biomarkers. Ten single nucleotide polymorphisms (SNPs) were analyzed, and circulating cell-free DNA (cfDNA) was measured from plasma. Four microRNAs (miR-99a-5p, miR-192-5p, miR-214-3p, and miR-342-5p) were quantified in serum using quantitative RT-PCR.
Results:
Genotyping identified 4 single nucleotide polymorphisms (SNPs) that were significantly associated with AF (rs6817105, rs3807989, rs10824026, and rs2106261), and the genetic risk score using 4 SNPs showed the area under the curve (AUC) of 0.631. Circulating miRNAs and cfDNA did not show significant differences between PAF and control groups. The concentration of cfDNA was significantly higher in patients with a history of stroke, and the AUC was 0.950 to estimate the association with stroke.
Conclusion:
The risk of AF could be assessed by genetic risk score. Furthermore, the risk of stroke might be evaluated by plasma cfDNA level.
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