Integrated Genomic Approaches to Elucidate the Genetic Basis of Brugada Syndrome in Taiwanese Patients.

ABSTRACT: Brugada syndrome (BrS) is a rare cardiac arrhythmia with a complex and largely unexplained genetic basis. In this study, we analysed genomic data from 214 Taiwanese BrS cases and 1316 controls to uncover susceptibility loci using genome-wide association study (GWAS), copy number variation (CNV) analysis, and rare-variant association test (RVAT). Imputation with a population-specific Merged-TWN-panel yielded the highest accuracy across SNP categories. GWAS identified four genome-wide significant SNPs across three loci, including SCN10A, ZNF451, and RP11-510I5, with the ZNF451 locus showing a strong association (OR = 9.845, P = 6.8e-11). The total SNP-heritability for BrS was estimated at 0.18 (SE = 0.20), and SNPs located in the 3 risk loci regions

SUBMITTER: Goswami C 

PROVIDER: S-EPMC12547146 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature