Polymorphism H558R in the human cardiac sodium channel SCN5A gene is associated with atrial fibrillation

Journal of International Medical Research

Volumn 39, Issue 5, 2011, Pages 1908-1916

  Chen, L ^a,b   Zhang, W ^a   Fang, C ^a   Jiang, S ^a   Shu, C ^a   Cheng, H ^a   Li, F ^a   Li, H ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b Harbin Red Cross Central Hospital   (China)

Author keywords

Atrial Fibrillation; H558R; Human Cardiac Sodium Channel; Polymorphism; SCN5A Gene

Indexed keywords

ARGININE; HISTIDINE;

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HEART ATRIUM FIBRILLATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MOLECULAR PATHOLOGY; PHASE TRANSITION; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VOLTAGE GATED SODIUM CHANNEL TYPE 5 ALPHA SUBUNIT GENE;

EID: 80155193856     PISSN: 03000605     EISSN: None     Source Type: Journal    
DOI: 10.1177/147323001103900535     Document Type: Article

References (50)

1. Go AS, Hylek EM, Phillips KA, et al: Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. JAMA 2001; 285: 2370-2375.
2. Wolf PA, Abbott RD, Kannel WB: Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke 1991; 22: 983-988.
3. Benjamin EJ, Wolf PA, D'Agostino RB, et al: Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation 1998; 98: 946-952.
4. Benjamin EJ, Levy D, Vaziri SM, et al: Independent risk factors for atrial fibrillation in a population-based cohort. The Framingham Heart Study. JAMA 1994; 271: 840-844.
5. Chen LY, Ballew JD, Herron KJ, et al: A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clin Pharmacol Ther 2007; 81: 35-41.
6. Lai LP, Su MJ, Yeh HM, et al: Association of the human minK gene 38G allele with atrial fibrillation: evidence of possible genetic control on the pathogenesis of atrial fibrillation. Am Heart J 2002; 144: 485-490.
7. Schreieck J, Dostal S, von Beckerath N, et al: C825T polymorphism of the G-protein C3 subunit gene and atrial fibrillation: association of the TT genotype with a reduced risk for atrial fibrillation. Am Heart J 2004; 148: 545-550.
8. Tsai CT, Lai LP, Lin JL, et al: Renin-angiotensin system gene polymorphisms and atrial fibrillation. Circulation 2004; 109: 1640-1646.
9. Ravn LS, Hofman-Bang J, Dixen U, et al: Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation. Am J Cardiol 2005; 96: 405-407.
10. Brugada R, Tapscott T, Czernuszewicz GZ, et al: Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 1997; 336: 905-911.
11. Ellinor PT, Shin JT, Moore RK, et al: Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 2003; 107: 2880-2883.
12. Darbar D, Hardy A, Haines JL, et al: Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol 2008; 51: 1083-1089.
13. Yang Y, Xia M, Jin Q, et al: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 2004; 75: 899-905.
14. Xia M, Jin Q, Bendahhou S, et al: A Kir2.1 gainof-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 2005; 332: 1012-1019.
15. Olson TM, Alekseev AE, Liu XK, et al: Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 2006; 15: 2185-2191.
16. Hu D, Sun Y: Epidemiology, risk factors for stroke, and management of atrial fibrillation in China. J Am Coll Cardiol 2008; 52: 865-868.
17. Shi L, Li C, Wang C, et al: Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Hum Genet 2009; 126: 843-849.
18. Roberts JD, Gollob MH: Impact of genetic discoveries on the classification of lone atrial fibrillation. J Am Coll Cardiol 2010; 55: 705-712.
19. Gellens ME, George AL Jr, Chen LQ, et al: Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 1992; 89: 554-558.
20. Darbar D, Kannankeril PJ, Donahue BS, et al: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008; 117: 1927-1935.
21. George AL Jr, Varkony TA, Drabkin HA, et al: Assignment of the human heart tetrodotoxinresistant voltage-gated Na+ channel c-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 1995; 68: 67-70.
22. Chen Q, Kirsch GE, Zhang D, et al: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-296.
23. Laitinen-Forsblom PJ, Mäkynen P, Mäkynen H, et al: SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. J Cardiovasc Electrophysiol 2006; 17: 480-485.
24. 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.
25. Akai J, Makita N, Sakurada H, et al: A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett 2000; 479: 29-34.
26. Schott JJ, Alshinawi C, Kyndt F, et al: Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999; 23: 20-21.
27. Liu K, Yang T, Viswanathan PC, et al: New mechanism contributing to drug-induced arrhythmia: rescue of a misprocessed LQT3 mutant. Circulation 2005; 112: 3239-3246.
28. Splawski I, Timothy KW, Tateyama M, et al: Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002; 297: 1333-1336.
29. 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.
30. Ye B, Valdivia CR, Ackerman MJ, et al: A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 2003; 12: 187-193.
31. Poelzing S, Forleo C, Samodell M, et al: SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 2006; 114: 368-376.
32. Chen JZ, Xie XD, Wang XX, et al: Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. Chin Med J (Engl) 2004; 117: 652-656.
33. Lizotte E, Junttila MJ, Dube MP, et al: Genetic modulation of Brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009; 20: 1137-1141.
34. Marangoni S, Di Resta C, Rocchetti M, et al: A Brugada syndrome mutation (p. S216L) and its modulation by p. H558R polymorphism: standard and dynamic characterization. Cardiovasc Res 2011; 91: 606-616.
35. Smits JP, Koopmann TT, Wilders R, et al: A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005; 38: 969-981.
36. Wang Q, Shen J, Splawski I, et al: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-811.
37. Makiyama T, Akao M, Shizuta S, et al: A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. J Am Coll Cardiol 2008; 52: 1326-1334.
38. Amin AS, Tan HL, Wilde AA: Cardiac ion channels in health and disease. Heart Rhythm 2010; 7: 117-126.
39. Brugada P, Brugada J: Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992; 20: 1391-1396.
40. Hedley PL, Jorgensen P, Schlamowitz S, et al: The genetic basis of Brugada syndrome: a mutation update. Hum Mutat 2009; 30: 1256-1266.
41. Gussak I, Antzelevitch C, Bjerregaard P, et al: The Brugada syndrome: clinical, electrophysiologic and genetic aspects. J Am Coll Cardiol 1999; 33: 5-15.
42. Kyndt F, Probst V, Potet F, et al: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001; 104: 3081-3086.
43. Olson TM, Michels VV, Ballew JD, et al: Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 2005; 293: 447-454.
44. McNair WP, Ku L, Taylor MR, et al: SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004; 110: 2163-2167.
45. Antzelevitch C, Brugada P, Borggrefe M, et al: Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005; 111: 659-670.
46. Nellens P, Gursoy S, Andries E, et al: Transcoronary chemical ablation of arrhythmias. Pacing Clin Electrophysiol 1992; 15: 1368-1373.
47. Tan HL, Kupershmidt S, Zhang R, et al: A calcium sensor in the sodium channel modulates cardiac excitability. Nature 2002; 415: 442-447.
48. Morita H, Kusano-Fukushima K, Nagase S, et al: Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome. J Am Coll Cardiol 2002; 40: 1437-1444.
49. Wang DW, Viswanathan PC, Balser JR, et al: Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 2002; 105: 341-346.
50. Makielski JC, Ye B, Valdivia CR, et al: A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 2003; 93: 821-828.