A Rare Noncoding Enhancer Variant in

Asia, Southeastern Brugada syndrome genetics mutation

Journal

Circulation
ISSN: 1524-4539
Titre abrégé: Circulation
Pays: United States
ID NLM: 0147763

Informations de publication

Date de publication:
11 Oct 2024
Historique:
medline: 11 10 2024
pubmed: 11 10 2024
entrez: 11 10 2024
Statut: aheadofprint

Résumé

Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the Genome sequencing of BrS probands and population-matched controls from Thailand was performed to identify rare noncoding variants at the A rare noncoding variant in an This is the first example of a functionally validated rare noncoding variant at the

Sections du résumé

BACKGROUND UNASSIGNED
Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the
METHODS UNASSIGNED
Genome sequencing of BrS probands and population-matched controls from Thailand was performed to identify rare noncoding variants at the
RESULTS UNASSIGNED
A rare noncoding variant in an
CONCLUSIONS UNASSIGNED
This is the first example of a functionally validated rare noncoding variant at the

Identifiants

DOI: 10.1161/CIRCULATIONAHA.124.069041 PMID: 39391988
pubmed: 39391988
doi: 10.1161/CIRCULATIONAHA.124.069041
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Roddy Walsh (R)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
ORCID: 0000-0001-5092-8825

John Mauleekoonphairoj (J)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
ORCID: 0000-0001-7644-0940

Isabella Mengarelli (I)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
ORCID: 0000-0002-7862-8733

Fernanda M Bosada (FM)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
ORCID: 0000-0001-9817-7370

Arie O Verkerk (AO)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (A.O.V., K.v.D., V.M.C.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
ORCID: 0000-0003-2140-834X

Karel van Duijvenboden (K)

Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (A.O.V., K.v.D., V.M.C.).
ORCID: 0000-0001-5691-8097

Yong Poovorawan (Y)

Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (Y.P., A.K.).
ORCID: 0000-0002-2337-6807

Wanwarang Wongcharoen (W)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
ORCID: 0000-0002-2418-329X

Boosamas Sutjaporn (B)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
ORCID: 0000-0003-3117-9288

Pharawee Wandee (P)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).

Nitinan Chimparlee (N)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
Department of Medicine, Piyavate Hospital, Bangkok, Thailand (N.C.).
ORCID: 0000-0003-2835-2828

Ronpichai Chokesuwattanaskul (R)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).

Kornkiat Vongpaisarnsin (K)

Department of Forensic Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (K.V.).
Department of Center of Excellence in Forensic Genetics, Ratchadapiseksompotch Fund, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (K.V., P.D.).
ORCID: 0000-0002-3434-3496

Piyawan Dangkao (P)

Department of Center of Excellence in Forensic Genetics, Ratchadapiseksompotch Fund, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (K.V., P.D.).
Forensic Serology and DNA, King Chulalongkorn Memorial Hospital and Thai Red Cross Society, Bangkok, Thailand (P.D.).
ORCID: 0009-0009-3261-4879

Cheng-I Wu (CI)

Heart Rhythm Center, Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taiwan (C.-I.W.).

Rafik Tadros (R)

Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Quebec, Canada (R.T.).
ORCID: 0000-0002-1472-0258

Ahmad S Amin (AS)

Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Department of Clinical Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., K.V.V.L., P.G.P., A.A.M.W.).
ORCID: 0000-0002-1600-7907

Krystien V V Lieve (KVV)

Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Department of Clinical Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., K.V.V.L., P.G.P., A.A.M.W.).
ORCID: 0000-0003-3960-5552

Pieter G Postema (PG)

Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Department of Clinical Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., K.V.V.L., P.G.P., A.A.M.W.).
ORCID: 0000-0003-2863-9159

Maarten Kooyman (M)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
ORCID: 0000-0002-9023-5617

Leander Beekman (L)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).

Dujdao Sahasatas (D)

Department of Medicine, Faculty of Medicine, Khon Kaen University, Thailand (D.S., P.M.).

Montawatt Amnueypol (M)

Department of Medicine, Faculty of Medicine at Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. (M.A., T. Ngarmukos).
ORCID: 0000-0003-2807-1145

Rungroj Krittayaphong (R)

Department of Faculty of Medicine at Siriraj Hospital, Mahidol University, Bangkok, Thailand. (R.K.).
ORCID: 0000-0001-8684-2361

Somchai Prechawat (S)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).

Alisara Anannab (A)

Department of Cardiovascular and Intervention, Central Chest Institute of Thailand, Nonthaburi, Thailand (A.A.).
ORCID: 0000-0002-8495-7613

Pattarapong Makarawate (P)

Department of Medicine, Faculty of Medicine, Khon Kaen University, Thailand (D.S., P.M.).
ORCID: 0000-0002-5330-6084

Tachapong Ngarmukos (T)

Department of Medicine, Faculty of Medicine at Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. (M.A., T. Ngarmukos).
ORCID: 0000-0002-4335-930X

Keerapa Phusanti (K)

Department of Medicine, Maharat Nakhon Ratchasima Hospital, Nakorn Ratchasima, Thailand (K.P.).
ORCID: 0009-0001-6983-5132

Gumpanart Veerakul (G)

Bangkok Heart Hospital, Bangkok General Hospital, Thailand (G.V., A.K.).

Zoya Kingsbury (Z)

Illumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).

Taksina Newington (T)

Illumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).

Uma Maheswari (U)

Illumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).
ORCID: 0000-0001-7007-9234

Mark T Ross (MT)

Illumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).

Andrew Grace (A)

Department of Biochemistry, University of Cambridge, UK (A.G.).
ORCID: 0000-0002-0686-215X

Pier D Lambiase (PD)

Cardiology, Medicine, Barts Heart Centre, London, UK (P.D.L.).
Institute of Cardiovascular Science, Population Health, UCL, London, UK (P.D.L.).
ORCID: 0000-0002-9055-9267

Elijah R Behr (ER)

Molecular and Clinical Sciences Research Institute, St. George's, University of London, UK (E.R.B.).
Cardiology Clinical Academic Group, St. George's University Hospitals NHS Foundation Trust, London, UK (E.R.B.).
ORCID: 0000-0002-8731-2853

Jean-Jacques Schott (JJ)

Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Nantes Université, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, Nantes, France (J.-J.S., R.R., J.B.).
ORCID: 0000-0002-9578-9475

Richard Redon (R)

Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Nantes Université, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, Nantes, France (J.-J.S., R.R., J.B.).
ORCID: 0000-0001-7751-2280

Julien Barc (J)

Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Nantes Université, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, Nantes, France (J.-J.S., R.R., J.B.).
ORCID: 0000-0003-4106-5946

Vincent M Christoffels (VM)

Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (A.O.V., K.v.D., V.M.C.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
ORCID: 0000-0003-4131-2636

Arthur A M Wilde (AAM)

Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).
Department of Clinical Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., K.V.V.L., P.G.P., A.A.M.W.).
ORCID: 0000-0002-0528-0852

Koonlawee Nademanee (K)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
Pacific Rim Electrophysiology Research Institute, Bumrungrad Hospital, Bangkok, Thailand (K.N.).
ORCID: 0000-0001-8139-0343

Connie R Bezzina (CR)

Department of Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands. (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.).
Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).

Apichai Khongphatthanayothin (A)

Department of Medicine, Center of Excellence in Arrhythmia Research, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.).
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. (Y.P., A.K.).
Bangkok Heart Hospital, Bangkok General Hospital, Thailand (G.V., A.K.).

Classifications MeSH