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Nature Research, Nature Genetics, 11(45), p. 1409-1409, 2013

DOI: 10.1038/ng1113-1409b

Nature Research, Nature Genetics, 9(45), p. 1044-1049, 2013

DOI: 10.1038/ng.2712

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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Journal article published in 2013 by Connie R. Bezzina, Christoffels Vm, Julien Barc, Carol Ann Remme, Yuka Mizusawa, Arie O. Verkerk, Jean-Baptiste Gourraud, Floriane Simonet, Peter J. Schwartz, Bezzina Cr, Lia Crotti, Charles Antzelevitch, Sven Zumhagen, Remme Ca, Susan Bartkowiak 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

Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10(-68); rs9388451, P = 5.1 × 10(-17)) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10(-14)). The cumulative effect of the three loci on disease susceptibility was unexpectedly large (Ptrend = 6.1 × 10(-81)). The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia. The implication of association with HEY2, supported by new evidence that Hey2 regulates cardiac electrical activity, shows that Brugada syndrome may originate from altered transcriptional programming during cardiac development. Altogether, our findings indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.