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Cited by 542

The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.

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

Open access
Bezzina, Connie R, Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O, Schwartz, Peter J, Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Borggrefe, Martin, Schimpf, Rainer, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R, Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M, Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J, Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L, Roden, Dan M, Christoffels, Vincent M, Le Marec, Hervé, Wilde, Arthur A, Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, Redon, Richard·2013·Nature Genetics
DOI 10.1038/ng.2712
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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.

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Authors
Bezzina, C. R., Barc, J., Mizusawa, Y., Remme, C. A., Gourraud, J.-B., Simonet, F., Verkerk, A. O., Schwartz, P. J., Crotti, L., Dagradi, F., Guicheney, P., Fressart, V., Leenhardt, A., Antzelevitch, C., Bartkowiak, S., Borggrefe, M., Schimpf, R., Schulze-Bahr, E., Zumhagen, S., Behr, E. R., Bastiaenen, R., Tfelt-Hansen, J., Olesen, M. S., Kääb, S., Beckmann, B. M., Weeke, P., Watanabe, H., Endo, N., Minamino, T., Horie, M., Ohno, S., Hasegawa, K., Makita, N., Nogami, A., Shimizu, W., Aiba, T., Froguel, P., Balkau, B., Lantieri, O., Torchio, M., Wiese, C., Weber, D., Wolswinkel, R., Coronel, R., Boukens, B. J., Bézieau, S., Charpentier, E., Chatel, S., Despres, A., Gros, F., Kyndt, F., Lecointe, S., Lindenbaum, P., Portero, V., Violleau, J., Gessler, M., Tan, H. L., Roden, D. M., Christoffels, V. M., Le Marec, H., Wilde, A. A., Probst, V., Schott, J.-J., Dina, C., & Redon, R.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2013-07-21
Volume
45
Issue
9
Pages
1044-1049
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.2712
OpenAlex
W2078311582
Cited by
542
References
62
FWCI
31.99
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. https://app.cochat.ai/papers/10.1038/ng.2712
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Bezzina, C. R., Barc, J., Mizusawa, Y., Remme, C. A., Gourraud, J.-B., Simonet, F., Verkerk, A. O., Schwartz, P. J., Crotti, L., Dagradi, F., Guicheney, P., Fressart, V., Leenhardt, A., Antzelevitch, C., Bartkowiak, S., Borggrefe, M., Schimpf, R., Schulze-Bahr, E., Zumhagen, S., . . . Redon, R. (2013). Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nature Genetics. https://doi.org/10.1038/ng.2712

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.