Key result
Brugada syndrome inheritance involves both rare SCN5A variants and common alleles linked to disease risk.
Population
Patients with Brugada syndrome and individuals with genetic variants associated with the disease
Design
Review
Authors
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May refine genetic counseling in Brugada families; leaves open validation of polygenic scores in prospective cohorts.
The genetic architecture of Brugada syndrome is complex, involving both rare variants like SCN5A and common risk alleles, which may explain the high phenotypic variability and incomplete penetrance.
Gourraud et al. (2016) conducted a review in Brugada syndrome. Brugada syndrome exhibits a complex mode of inheritance involving both rare coding variants, primarily in the SCN5A gene, and common polymorphic alleles that strongly associate with disease risk.
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