The Brugada syndrome (BrS) is an inherited electrical disorder associated with high risk for sudden cardiac death. BrS is causally related to mutations in the SCN5A gene in 20% of cases and remains largely unexplained in the remaining cases.
We have recently identified three common haplotypes associated to BrS susceptibility by GWAS and plan to extend our study by sequencing the whole genomes of 900 BrS cases and 1,900 control individuals. This extensive survey will allow interrogating the whole spectrum of genetic alleles with frequencies down to 0.1%.