Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

Heart Rhythm

Volumn 9, Issue 7, 2012, Pages 1090-1096

  Park, Ji Kwon ^a,b   Martin, Lisa J ^b   Zhang, Xue ^b   Jegga, Anil G ^b   Benson, D Woodrow ^b  

^a Gyeongsang National University   (South Korea)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Arrhythmia; Genetic variants; Promoter; Sudden cardiac death

Indexed keywords

SODIUM CHANNEL NAV1.5;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA METHYLATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART ARRHYTHMIA; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ARRHYTHMIAS, CARDIAC; DEATH, SUDDEN, CARDIAC; DNA FINGERPRINTING; DNA METHYLATION; FEMALE; GENETIC LINKAGE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 84862863899     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2012.02.023     Document Type: Article

References (35)

1. Lehnart SE, Ackerman MJ, Benson DW Jr, et al. Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation 2007;116:2325-2345. (Pubitemid 350100339)
2. Remme CA, Wilde AA, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med 2008;18: 78-87. (Pubitemid 351626603)
3. Ruan Y, Liu N, Priori SG. Sodium channel mutations and arrhythmias. Nat Rev Cardiol 2009;6:337-348.
4. Meregalli PG, Tan HL, Probst V, et al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 2009;6:341-348.
5. Amin AS, Asghari-Roodsari A, Tan HL. Cardiac sodium channelopathies. Pflugers Arch 2010;460:223-237.
6. Priori SG, Aliot E, Blomstrom-Lundqvist C, et al. Task force on sudden cardiac death of the European Society of Cardiology. Eur Heart J 2001;22:1374-1450. (Pubitemid 32771346)
7. Remme CA, Wever EF, Wilde AA, Derksen R, Hauer RN. Diagnosis and long-term follow-up of the Brugada syndrome in patients with idiopathic ventricular fibrillation. Eur Heart J 2001;22:400-409. (Pubitemid 32622445)
8. Brugada J, Brugada R, Antzelevitch C, Towbin J, Nademanee K, Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3. Circulation 2002;105:73-78. (Pubitemid 34049145)
9. Brugada J, Brugada R, Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest. Circulation 2003;108:3092-3096. (Pubitemid 38031797)
10. Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 2002;105: 1342-1347. (Pubitemid 34260426)
11. Gehi AK, Duong TD, Metz LD, Gomes JA, Mehta D. Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J Cardiovasc Electrophysiol 2006;7:577-583.
12. Probst V, Veltmann C, Eckardt L, et al. Long-term prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada Syndrome Registry. Circulation 2010;121:635-643.
13. Raju H, Papadakis M, Govindan M, et al. Low prevalence of risk markers in cases of sudden death due to Brugada syndrome relevance to risk stratification in Brugada syndrome. J Am Coll Cardiol 2011;57:2340-2345.
14. Priori SG, Gasparini M, Napolitano C, et al. Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation pre-Dictive valuE) registry. J Am Coll Cardiol 2012;59:37-45.
15. Benson DW, Wang DW, Dyment M, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003;112:1019-1028. (Pubitemid 38056317)
16. Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 2003; 111:341-346. (Pubitemid 36182210)
17. Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschênes I. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm 2011;8:455-462.
18. Butler JE, Kadonaga JT. The RNA polymerase II core promoter: a key component in the regulation of gene expression. Genes Dev 2002;16:2583-2592.
19. Smale ST, Kadonaga JT. The RNA polymerase II core promoter. Annu Rev Biochem 2003;72:449-479. (Pubitemid 36930452)
20. Yang P, Koopmann TT, Pfeufer A, et al. Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity. Eur J Hum Genet 2008;16:350-357. (Pubitemid 351292235)
21. Bezzina CR, Shimizu W, Yang P, et al. Common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction. Circulation 2006;113:338-344. (Pubitemid 43803194)
22. Deaton AM, Bird A. CpG islands and the regulation of transcription. Genes Dev 2011;25:1010-1022.
23. Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A 2005;102:10604-10609. (Pubitemid 41061601)
24. Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996;34:9-16. (Pubitemid 26159876)
25. Yang P, Kupershmidt S, Roden DM. Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter. Cardiovasc Res 2004;61:56-65. (Pubitemid 38056681)
26. Fujita PA, Rhead B, Zweig AS, et al. The UCSC Genome Browser database: update 2011. Nucleic Acids Res 2011;39:D876-D882.
27. Quandt K, Frech K, Karas H, Wingender E, Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 1995;23:4878-4884. (Pubitemid 3008389)
28. Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, Geiger D. Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 2006;78:922-935. (Pubitemid 43787685)
29. Fishelson M, Geiger D. Exact genetic linkage computations for general pedigrees. Bioinformatics 2002;18:S189-S198. (Pubitemid 41185653)
30. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998;62:1198-1211. (Pubitemid 28199022)
31. Kapplinger JD, Tester DJ, Alders M, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010;7:33-46.
32. Leoni AL, Gavillet B, Rougier JS, et al. Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. PLoS One 2010;5:e9298.
33. Amin AS, Giudicessi JR, Tijsen AJ, et al. Variants in the 3= untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J 2012;33:714-23.
34. Hamza MS, Pott S, Vega VB, et al. De-novo identification of PPARgamma/RXR binding sites and direct targets during adipogenesis. PLoS One 2009;4: e4907.
35. Probst V, Wilde AA, Barc J, et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2009;2:552-557.