Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia by Splawski Igor, Timothy Katherine W, Tateyama Michihiro, Clancy Colleen E, Malhotra Alka, Beggs Alan H, Cappuccio Francesco P, Sagnella Giuseppe A, Kass Robert S, Keating Mark T in Science (New York, N.Y.) (2002). PubMed

Abstract

Every year, approximately 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.

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