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Article

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.

Physiological genomics - 13 May 2011

Cheng Jianding, Tester David J, Tan Bi-Hua, Valdivia Carmen R, Kroboth Stacie, Ye Bin, January Craig T, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African Americans) is a risk factor for arrhythmia, sudden unexplained death (SUD), and sudden infant death syndrome. Prompted by a case of autopsy-negative SUD in a 23-year-old African American man who collapsed while playing football, we hypothesized that S1103Y interacted with other SCN5A variants to pathologically modify sodium current (I(Na))....

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Identifiers

PMID: 21385947
DOI: 10.1152/physiolgenomics.00198.2010
PMCID: PMC3110896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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