What you carry at this position in your DNA and what research says about it.
Atrial Fibrillation Risk: 9/10 evidence, 27 publications.
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Sample genotype (not yours): A/A
Lower Risk of Atrial Fibrillation but Longer PR Interval
Two copies of the A allele are associated with a lower risk of atrial fibrillation and related arrhythmias. However, this genotype is linked to a longer PR interval, indicating slower electrical conduction through the heart's upper chambers.
What this genotype means: Lower risk of atrial fibrillation; Longer PR interval on ECG; Slightly higher pulse pressure.
Sample genotype (not yours): A/G
Moderately Increased Risk of Atrial Fibrillation
A single copy of the G allele is linked to a moderately increased risk of atrial fibrillation compared to the A/A genotype. This heterozygous state represents an intermediate level of risk and conduction speed.
What this genotype means: Moderately higher risk of atrial fibrillation; Slightly increased risk of cardioembolic stroke; Typical cardiac conduction times.
Sample genotype (not yours): G/G
Higher Risk of Atrial Fibrillation and Arrhythmias
Two copies of the G allele are associated with an increased risk of developing atrial fibrillation and related heart rhythm disorders. This genetic profile is also linked to a slightly shorter PR interval, indicating faster electrical conduction through the atria.
What this genotype means: Higher risk of atrial fibrillation; Increased risk of cardioembolic stroke; Shorter PR interval on ECG.
Gene function and biological role
Gene Function: The CAV1 gene encodes caveolin-1, a major component of caveolae membranes in cells like atrial myocytes [1]. Caveolin-1 plays a critical role in regulating cardiac electrical activity by interacting with key ion channels, including sodium and potassium channels [2]. It helps organize these channels on the cell surface to ensure coordinated heartbeats [2]. Variations in this gene can alter cardiac conduction and predispose individuals to arrhythmias [3].
Variant Impact: The rs3807989 variant is an intron variant located within the CAV1 gene on chromosome 7 [1]. This genetic change influences the expression of caveolin-1, thereby modulating cardiac conduction velocities and susceptibility to rhythm disturbances [2]. The G allele is associated with a higher risk of atrial fibrillation, whereas the A allele is linked to a longer PR interval on electrocardiograms [4]. Studies in diverse populations have confirmed these associations, highlighting the variant's role in cardiac electrophysiology [5].
Key Insight: While the G allele increases the risk of atrial fibrillation, it actually shortens the PR interval, showing a complex trade-off between conduction speed and arrhythmia risk.
Location: CAV1. Chromosome 7 · 7q31.2 · 116.5 Mb
Estimated prevalence by population
Global 23.3%; European 16.4%; African 43.0%; East Asian 7.5%; South Asian 15.6%; Americas 14.3%; Ashkenazi 14.8%; Finnish 17.6%; Middle Eastern 23.0%; Amish 23.8%.
Estimated AA genotype frequency.
Global 47.0%; European 48.2%; African 45.2%; East Asian 39.7%; South Asian 47.8%; Americas 47.0%; Ashkenazi 47.4%; Finnish 48.7%; Middle Eastern 49.9%; Amish 50.0%.
Estimated AG genotype frequency.
Global 29.8%; European 35.5%; African 11.9%; East Asian 52.8%; South Asian 36.5%; Americas 38.7%; Ashkenazi 37.8%; Finnish 33.6%; Middle Eastern 27.1%; Amish 26.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Rhythm & Conduction
Atrial Fibrillation. Evidence: 9/10. Source: PMID 40050429. Lower Risk.
PR Interval. Evidence: 10/10. Source: PMID 30046033. +4.0 ms (Slower).
Stroke
Cardioembolic Stroke. Evidence: 6/10. Source: PMID 35872910. Lower Risk.
Hypertension
Pulse Pressure. Evidence: 7/10. Source: PMID 38459180. Slightly Higher.
Showing effects for A/G genotype
Atrial Fibrillation. Evidence: 9/10. Source: PMID 40050429. ~1.1x Risk.
PR Interval. Evidence: 10/10. Source: PMID 30046033. +2.0 ms (Typical).
Cardioembolic Stroke. Evidence: 6/10. Source: PMID 35872910. Slightly Higher Risk.
Pulse Pressure. Evidence: 7/10. Source: PMID 38459180. Typical.
Showing effects for G/G genotype
Atrial Fibrillation. Evidence: 9/10. Source: PMID 40050429. ~1.2x Risk.
PR Interval. Evidence: 10/10. Source: PMID 30046033. Typical (Faster).
Cardioembolic Stroke. Evidence: 6/10. Source: PMID 35872910. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the A allele provide significant protection against atrial fibrillation and related arrhythmias [1]. However, this protective effect against arrhythmias comes with a longer PR interval on electrocardiograms, reflecting slower electrical conduction through the atria [2]. It is also linked to slightly longer QRS and QT intervals, which are other measures of cardiac electrical activity [3]. Additionally, this genotype is associated with a slight increase in pulse pressure [4]. Despite these minor conduction delays, the overall risk of cardioembolic stroke is lower in this group due to the reduced incidence of atrial fibrillation. Maintaining a healthy lifestyle can further support overall cardiovascular health.
Lower risk of atrial fibrillation; Longer PR interval on ECG; Slightly higher pulse pressure.
Sample genotype: AG (Heterozygous)
One copy of each allele results in a moderate increase in the risk of developing atrial fibrillation compared to having two copies of the protective A allele [1]. Research indicates that the G allele acts in an additive manner, meaning a single copy confers an intermediate risk of arrhythmias like atrial flutter [2]. This genotype also leads to intermediate measurements on electrocardiograms, including a typical PR interval and QRS duration [3]. The risk of cardioembolic stroke is also slightly elevated compared to the baseline A/A genotype [4]. Managing cardiovascular health through lifestyle choices remains important for individuals with this genetic profile.
Moderately higher risk of atrial fibrillation; Slightly increased risk of cardioembolic stroke; Typical cardiac conduction times.
Sample genotype: GG (Homozygous)
Two copies of the G allele are consistently linked to a higher risk of atrial fibrillation, a common heart rhythm disorder [1]. It is also associated with related conditions such as atrial flutter and paroxysmal tachycardia [2]. Additionally, individuals with this genotype have an increased risk of cardioembolic stroke, which is often a consequence of untreated atrial fibrillation [3]. On electrocardiograms, this genetic makeup is associated with a shorter PR interval, reflecting faster electrical conduction through the upper chambers of the heart [4]. While faster conduction might seem beneficial, it may contribute to the chaotic electrical signals seen in atrial fibrillation. Routine cardiovascular wellness habits are highly recommended for individuals with this profile.
Higher risk of atrial fibrillation; Increased risk of cardioembolic stroke; Shorter PR interval on ECG.
Variants with shared genetic architecture
rs11773845 · CAV1 Gene · Chr 7 · Atrial Fibrillation Risk
rs4236601 · CAV1 Gene · Chr 7 · Glaucoma Risk
rs9920 · CAV1 Gene · Chr 7 · Pancreas Transplant Success
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
Sex-specific genetic architecture of blood pressure.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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