Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

Igor Splawski, Katherine W. Timothy, Michihiro Tateyama, Colleen E Clancy, Alka Malhotra, Alan H. Beggs, Francesco P. Cappuccio, Giuseppe A. Sagnella, Robert S. Kass, Mark T. Keating

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441 Scopus citations


Every year, ∼450,000 individuals in the United States die suddenly of cardiac arrhythmia. We identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans (P = 0.000028) and linked with arrhythmia risk in an African-American family (P = 0.005). In transfected cells, the variant allele (Y1102) accelerated channel activation, increasing the likelihood of abnormal cardiac repolarization and arrhythmia. About 13.2% of African Americans carry the Y1102 allele. Because Y1102 has a subtle effect on risk, most carriers will never have an arrhythmia. However, Y1102 may be a useful molecular marker for the prediction of arrhythmia susceptibility in the context of additional acquired risk factors such as the use of certain medications.

Original languageEnglish (US)
Pages (from-to)1333-1336
Number of pages4
Issue number5585
StatePublished - Aug 23 2002
Externally publishedYes

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    Splawski, I., Timothy, K. W., Tateyama, M., Clancy, C. E., Malhotra, A., Beggs, A. H., Cappuccio, F. P., Sagnella, G. A., Kass, R. S., & Keating, M. T. (2002). Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science, 297(5585), 1333-1336.