A Rare Noncoding Enhancer Variant in <i>SCN5A</i> Contributes to the High Prevalence of Brugada Syndrome in Thailand
This is the first example of a functionally validated rare noncoding variant at the <i>SCN5A</i> locus and highlights how genome sequencing in understudied populations can identify novel disease mechanisms. The variant partly explains the increased prevalence of BrS in this region and enables the identification of at-risk variant carriers to reduce the burden of sudden cardiac death in Thailand.
Authors
- Andrew A. Grace (ORCID: https://orcid.org/0000-0002-0686-215X)
- Arthur A.M. Wilde (ORCID: https://orcid.org/0000-0002-0528-0852)
- Maarten Kooyman (ORCID: https://orcid.org/0000-0002-9023-5617)
- Ronpichai Chokesuwattanaskul (ORCID: https://orcid.org/0000-0002-4463-7447)
- Nitinan Chimparlee (ORCID: https://orcid.org/0000-0003-2835-2828)
- Elijah R. Behr (ORCID: https://orcid.org/0000-0002-8731-2853)
- Pharawee Wandee (ORCID: https://orcid.org/0000-0002-2676-0767)
- Isabella Mengarelli (ORCID: https://orcid.org/0000-0002-7862-8733)
- Connie R. Bezzina (ORCID: https://orcid.org/0000-0002-0633-3514)
- Karel van Duijvenboden (ORCID: https://orcid.org/0000-0001-5691-8097)
- Montawatt Amnueypol (ORCID: https://orcid.org/0000-0003-2807-1145)
- Pier D. Lambiase (ORCID: https://orcid.org/0000-0002-9055-9267)
- Leander Beekman (ORCID: https://orcid.org/0000-0002-7862-8733)
- Vincent M. Christoffels (ORCID: https://orcid.org/0000-0003-4131-2636)
- Pieter G. Postema (ORCID: https://orcid.org/0000-0003-2863-9159)
- Rafik Tadros (ORCID: https://orcid.org/0000-0002-1472-0258)
- Wanwarang Wongcharoen (ORCID: https://orcid.org/0000-0002-2418-329X)
- Julien Barc (ORCID: https://orcid.org/0000-0003-4106-5946)
- Fernanda M. Bosada (ORCID: https://orcid.org/0000-0001-9817-7370)
- Jean‐Jacques Schott (ORCID: https://orcid.org/0000-0002-9578-9475)
- Krystien V.V. Lieve (ORCID: https://orcid.org/0000-0003-3960-5552)
- Zoya Kingsbury
- Richard Redon (ORCID: https://orcid.org/0000-0001-7751-2280)
- Ahmad S. Amin (ORCID: https://orcid.org/0000-0002-1600-7907)
- Roddy Walsh (ORCID: https://orcid.org/0000-0001-5092-8825)
- Tachapong Ngarmukos (ORCID: https://orcid.org/0000-0002-4335-930X)
- Arie O. Verkerk (ORCID: https://orcid.org/0000-0003-2140-834X)
- Rungroj Krittayaphong (ORCID: https://orcid.org/0000-0001-8684-2361)
- Dujdao Sahasatas
- Alisara Anannab (ORCID: https://orcid.org/0000-0002-8495-7613)
- Apichai Khongphatthanayothin (ORCID: https://orcid.org/0000-0001-5738-1738)
- Boosamas Sutjaporn (ORCID: https://orcid.org/0000-0003-3117-9288)
- Somchai Prechawat
- Yong Poovorawan (ORCID: https://orcid.org/0000-0002-2337-6807)
- Koonlawee Nademanee (ORCID: https://orcid.org/0000-0001-8139-0343)
- John Mauleekoonphairoj (ORCID: https://orcid.org/0000-0001-7644-0940)
- Piyawan Dangkao
- Gumpanart Veerakul
- Pattarapong Makarawate (ORCID: https://orcid.org/0000-0002-5330-6084)
- Kornkiat Vongpaisarnsin (ORCID: https://orcid.org/0000-0002-3434-3496)
- Taksina Newington
- Keerapa Phusanti
- Mark T. Ross (ORCID: https://orcid.org/0000-0001-7851-1167)
- Uma Maheswari
- Cheng‐I Wu
Institutions
- Centre National de la Recherche Scientifique (FR)
- Department of Health and Social Care (GB)
- Siriraj Hospital (TH)
- Inserm (FR)
- Chulalongkorn University (TH)
- St George's, University of London (GB)
- Khon Kaen University (TH)
- University of Cambridge (GB)
- Mahidol University (TH)
- Bumrungrad International Hospital (TH)
- Montreal Heart Institute (CA)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Bangkok Hospital (TH)
- King Chulalongkorn Memorial Hospital (TH)
- Taipei Veterans General Hospital (TW)
- British Heart Foundation (GB)
- Maharat Nakhon Ratchasima Hospital (TH)
- Central Chest Institute of Thailand (TH)
- Granta Design (United Kingdom) (GB)
- Illumina (United Kingdom) (GB)
- Ramathibodi Hospital (TH)
- ERN GUARD-Heart (NL)
- Institut du Thorax (FR)
- Amsterdam University Medical Centers (NL)
- University College London (GB)
- University of Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
Publication Details
- Journal
- Circulation
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1161/circulationaha.124.069041
- Citations
- 11
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 4.42
Funders
- National Science and Technology Development Agency