Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

Author:

Behr Elijah R.1,Savio-Galimberti Eleonora2,Barc Julien3,Holst Anders G.456,Petropoulou Evmorfia1,Prins Bram P.1,Jabbari Javad457,Torchio Margherita8,Berthet Myriam91011,Mizusawa Yuka3,Yang Tao2,Nannenberg Eline A.12,Dagradi Federica8,Weeke Peter2,Bastiaenan Rachel1,Ackerman Michael J.1314,Haunso Stig4515,Leenhardt Antoine16,Kääb Stefan17,Probst Vincent1819,Redon Richard1819,Sharma Sanjay1,Wilde Arthur320,Tfelt-Hansen Jacob4515,Schwartz Peter8,Roden Dan M.2,Bezzina Connie R.3,Olesen Morten45,Darbar Dawood2,Guicheney Pascale91011,Crotti Lia81821,Jamshidi Yalda1,

Affiliation:

1. Human Genetics Research Centre, ICCS, St George's University of London, London SW17 0RE, UK

2. Divisions of Cardiovascular Medicine and Clinical Pharmacology, Vanderbilt University, Nashville, TN, USA

3. Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, Netherlands

4. Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

5. Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark

6. Novo Nordisk A/S, Denmark

7. LEO Pharma A/S, Denmark

8. IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy

9. Inserm, UMR S1166, Faculté de Médecine Pierre et Marie Curie, Paris, France

10. Sorbonne Universités, UPMC Univ Paris 06, UMR S1166, Paris, France

11. Institute of Cardiometabolism & Nutrition, ICAN, Pitié-Salpêtrière Hospital, Paris, France

12. Department of Clinical Genetics, Academic Medical Center, Amsterdam

13. Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA

14. Division of Pediatric Cardiology, Department of Pediatrics & Adolescent Medicine, Mayo Clinic, Rochester, MN, USA

15. Department of Medicine and Surgery, University of Copenhagen, Copenhagen, Denmark

16. AP-HP, Hôpital Bichat, Service de Cardiologie et Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France

17. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

18. Inserm, UMR 1087, l'institut du Thorax, Nantes, France

19. CHU Nantes, l'institut du Thorax, Service de Cardiologie, Nantes, France

20. Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia

21. Department of Molecular Medicine, University of Pavia, Pavia, Italy

Funder

National Institutes of Health

British Heart Foundation

French Ministry of Health

Ministry of Education, University and Research (MIUR)

Publisher

Oxford University Press (OUP)

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine,Physiology

Reference23 articles.

1. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes;Priori;Heart Rhythm,2013

2. Genetic testing for inherited cardiac disease;Wilde;Nat Rev Cardiol,2013

3. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death;Bezzina;Nat Genet,2013

4. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction;Sotoodehnia;Nat Genet,2010

5. Amino acid difference formula to help explain protein evolution;Grantham;Science,1974

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