Targeted genomic profiling identifies a Thai-specific variant in SCN5A contributing to Brugada syndrome

Abstract

Brugada syndrome, a disorder that can lead to sudden cardiac death, is a leading cause of death among young men in Thailand. However, the genetic factors underlying its high prevalence in Southeast Asia remain inadequately studied due to limited representation in genomic studies. A recent study by Walsh et al. identified a Thai-specific noncoding variant in the SCN5A locus and demonstrated its causal role in Brugada syndrome. This study highlights the importance of population-specific genomic research and advances our previously limited understanding of noncoding regulatory variants in cardiac disease.