Referenced in: none

Automatically associated channels: Nav1.5

Title: Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Authors: 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

Journal, date & volume: Science, 2002 Aug 23 , 297, 1333-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12193783

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.