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Oxford University Press (OUP), Cardiovascular Research, 3(106), p. 520-529

DOI: 10.1093/cvr/cvv042

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

Journal article published in 2015 by Elijah R. Behr, Behr Er, Eleonora Savio-Galimberti, Anders G. Holst ORCID, Julien Barc, Bram P. Prins, Evmorfia Petropoulou, Holst Ag, Eline A. Nannenberg, Javad Jabbari, Federica Dagradi, Margherita Torchio, Peter Weeke, Prins Bp, Rachel Bastiaenan and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

BACKGROUND: Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. OBJECTIVES: We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. METHODS AND RESULTS: A multi-centre study sequenced 7 candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBΧ3 and ΤΒΧ5) in 156 Caucasian SCN5A mutation-negative BrS patients (80% male; mean age 48) with symptoms (64%) and/or a family history of sudden death (47%) or BrS (18%). Forty-nine variants were identified: 18 were rare (MAF