Arrhythmias & electrophysiology
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand
Performance · Rare noncoding variant in an SCN5A intronic enhancer regionResult — go to the resultOdds ratio 45.2Authors' conclusion
This is the first example of a functionally validated rare noncoding variant at the SCN5A locus and highlights how genome sequencing in understudied populations can identify novel disease mechanisms.
Study context
- Population
- Brugada syndrome (BrS) probands and population-matched controls from Thailand
- Comparison
- BrS probands vs population-matched controls; enhancer-variant hiPSC-CMs vs isogenic controls
- Outcome
- Rare noncoding variants at the SCN5A-SCN10A locus enriched in BrS, and the prioritised variant's effect on SCN5A expression and Nav1.5 sodium current
Methodological detailspopulation-matched controls, CRISPR-Cas9 genome editing, isogenic controls
- Population-matched controls
- CRISPR-Cas9 genome editing
- Isogenic controls
Performance
As reported in the abstract
Rare noncoding variant in an SCN5A intronic enhancer region
Odds ratio
45.2
By group
BrS
3.9%
Further findings
Cardiac arrest in variant carriers
- Patients with the variant had severe phenotypes, with cardiac arrest
- 89%
Original publication
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand. Circulation. Published 11 October 2024. doi:10.
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