Article
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Circulation - 7 Jan 2025
Walsh Roddy, Mauleekoonphairoj John, Mengarelli Isabella, Bosada Fernanda M, Verkerk Arie O, van Duijvenboden Karel, Poovorawan Yong, Wongcharoen Wanwarang, Sutjaporn Boosamas, Wandee Pharawee, Chimparlee Nitinan, Chokesuwattanaskul Ronpichai, Vongpaisarnsin Kornkiat, Dangkao Piyawan, Wu Cheng-I, Tadros Rafik, Amin Ahmad S, Lieve Krystien V V, Postema Pieter G, Kooyman Maarten, Beekman Leander, Sahasatas Dujdao, Amnueypol Montawatt, Krittayaphong Rungroj, Prechawat Somchai, Anannab Alisara, Makarawate Pattarapong, Ngarmukos Tachapong, Phusanti Keerapa, Veerakul Gumpanart, Kingsbury Zoya, Newington Taksina, Maheswari Uma, Ross Mark T, Grace Andrew, Lambiase Pier D, Behr Elijah R, Schott Jean-Jacques, Redon Richard, Barc Julien, Christoffels Vincent M, Wilde Arthur A M, Nademanee Koonlawee, Bezzina Connie R, Khongphatthanayothin Apichai
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the SCN5A gene encoding the Nav1.5 sodium channel and common noncoding variants at this locus are robustly associated with the condition. BrS is particularly prevalent in Southeast Asia but the underlying ancestry-specific factors remain largely unknown. METHODS: Genome sequencing...
Topics
- NAV1.5 Voltage-Gated Sodium Channel
- Humans
- Brugada Syndrome
- Thailand
- Male