Arrhythmias & electrophysiology

Copy number variation of gasdermin D gene is associated with atrial fibrillation-related thromboembolic stroke

EuropacePublished Case-control genetic association study

Main finding · Ischaemic stroke risk, GSDMD homozygous deletion carriersResult — go to the resultOdds ratio 2.195 95% CI 1.24–3.90

Authors' conclusion

We found a link between the homozygous deletion of the GSDMD gene and an increased risk of stroke in patients with AF.

Study context

Population
Patients with documented non-familial atrial fibrillation (AF)100 with ischaemic stroke
Participants
400 patients
Comparison
Gasdermin D (GSDMD) homozygous deletion genotype vs other genotypes
  • Stroken = 100
Outcome
Association of GSDMD deletion with AF-related ischaemic stroke
Methodological detailsBaseline age, sex, valvular heart disease, CAD, HF and CHA2DS2-VASc scores not statistically different between cases and controls
  • Baseline age, sex, valvular heart disease, CAD, HF and CHA2DS2-VASc scores not statistically different between cases and controls

Main finding

As reported in the abstract

Ischaemic stroke risk, GSDMD homozygous deletion carriers

Odds ratio

2.195

95% CI 1.24–3.90

P = 0.007

GSDMD homozygous deletion genotypevs other genotypes
OR 2.195 (95% CI 1.24–3.90); P = 0.007

Observational data: associations, not effects.

Further findings

Validation in UK Biobank (Caucasian population)

Association of GSDMD with AF stroke validated

Original publication

Copy number variation of gasdermin D gene is associated with atrial fibrillation-related thromboembolic stroke. Europace. Published 21 April 2023. doi:10.1093/europace/euad103

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