Literature DB >> 12471205

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.

S Chen1, M K Chung, D Martin, R Rozich, P J Tchou, Q Wang.   

Abstract

Cardiac arrhythmias cause 400 000 sudden deaths annually in the United States alone. Mutations in the cardiac sodium channel gene SCN5A on chromosome 3p21 cause cardiac arrhythmias and sudden death. In this study, we define an SCN5A mutation, S1103Y, in a white family associated with syncope, ventricular fibrillation, and sudden death. A very recent study reported the same mutation in 13.2% of African Americans, but not in the white population. Our study shows that mutation S1103Y does exist in the white population, and it is associated with a considerable risk of syncope, ventricular arrhythmia, ventricular fibrillation, and sudden death in this population.

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Year:  2002        PMID: 12471205      PMCID: PMC1579860          DOI: 10.1136/jmg.39.12.913

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  13 in total

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

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Journal:  Physiol Genomics       Date:  2011-03-08       Impact factor: 3.107

4.  Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

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Journal:  Circulation       Date:  2011-08-08       Impact factor: 29.690

Review 5.  Clinical and genetic determinants of torsade de pointes risk.

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Authors:  John R Giudicessi; Michael J Ackerman
Journal:  Transl Res       Date:  2012-09-17       Impact factor: 7.012

7.  A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.

Authors:  Leigh D Plant; Peter N Bowers; Qianyong Liu; Thomas Morgan; Tingting Zhang; Matthew W State; Weidong Chen; Rick A Kittles; Steve A N Goldstein
Journal:  J Clin Invest       Date:  2006-02       Impact factor: 14.808

8.  Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

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Journal:  JAMA       Date:  2005-01-26       Impact factor: 56.272

Review 9.  Genetics of acquired long QT syndrome.

Authors:  Dan M Roden; Prakash C Viswanathan
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

10.  Arrhythmias: Opening Pandora's Box -- incidental genetic findings.

Authors:  Elijah R Behr; Andrew D Krahn
Journal:  Nat Rev Cardiol       Date:  2016-03-03       Impact factor: 32.419

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