rs11765936 - TBX20 - HERPUD2

Magnitude 2.8 · 1 study on file

Reported associations

• Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 35210625

  ABSTRACT: Brugada syndrome is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel Nav1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with Brugada syndrome and 10,001 controls and identified 21 association signals at 12 loci (10 novel). SNP-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient sub-groups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcripti

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