An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders

Genetic Testing and Molecular Biomarkers

Volumn 19, Issue 6, 2015, Pages 288-294

  Nikulina, Svetlana Y ^a   Chernova, Anna A ^a   Shulman, Vladimir A ^a   Maksimov, Vladimir N ^b   Gavrilyuk, Oksana A ^a   Tretyakova, Svetlana S ^a   Marilovceva, Olga V ^c  

^a KRASNOYARSK STATE MEDICAL UNIVERSITY   (Russian Federation)

^b Research Institute of Therapy and Preventive Medicine   (Russian Federation)

^c Regional SBHI Krasnoyarsk Interdistrict Clinical Hospital 20 n a I S Berzone   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; ATRIOVENTRICULAR BLOCK; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HEART LEFT ANTERIOR BUNDLE BRANCH BLOCK; HEART LEFT BUNDLE BRANCH BLOCK; HEART MUSCLE CONDUCTION DISTURBANCE; HEART RIGHT BUNDLE BRANCH BLOCK; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; PREDICTIVE VALUE; SODIUM CHANNEL NAV1.5 GENE; BIOLOGICAL MODEL; CASE CONTROL STUDY; CONGENITAL MALFORMATION; GENETIC PREDISPOSITION; GENETICS; HEART ARRHYTHMIA; HEART BUNDLE BRANCH BLOCK; HEART MUSCLE CONDUCTION SYSTEM; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

SCN5A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.5;

ADULT; ARRHYTHMIAS, CARDIAC; BUNDLE-BRANCH BLOCK; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEART CONDUCTION SYSTEM; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; YOUNG ADULT;

EID: 84930919741     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2015.0012     Document Type: Article

References (35)

1. Bland JM, Altman DG (2000) Statistics notes. Br Med J 320:1468.
2. Chen L, Zhang W, Fang C, et al. (2011) Polymorphism H558R in the human cardiac sodium channel SCN5A gene is associated with atrial fibrillation. Int Med Res 39:1908-1916.
3. Chen LY, Ballew JD, Herron KJ, et al. (2007) A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clin Pharmacol Ther 81:35-41.
4. Cheng J, Tester DJ, Tan BH, et al. (2011) The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current. Physiol Genomics 43:461-466.
5. Fleiss JL (1989) Statistical Methods for Rates and Proportions, 2nd edition. John Wiley and Sons, New York, NY.
6. García-Castro M, García C, Reguero JR, et al. (2010) The Spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients. Rev Esp Cardiol 63:856-859.
7. Glantz SA (1980) Biostatistics: how to detect, correct and prevent errors in the medical literature. Circulation 61:1-7.
8. Johnson NL, Leone FC (1964) Statistics and Experimental Designs. John Wiley and Sons, New York, NY.
9. Juang JM, Huang SK (2004) Brugada syndrome-an under-recognized electrical disease in patients with sudden cardiac death. Cardiology 10:157-169.
10. Kuznetsova TN, Voevoda MI, Podkolodnaia OA, et al. (2004) Deletsionnyy polimorfizm 11-go introna gena c-fms cheloveka: chastoty alleley v nekotorykh populyatsiyakh Rossii i vozmozh-naya funktsional'naya znachimost' [Deletional polymorphism of the 11th intron of the human c-fms gene: allele frequency in certain Russian populations and possible functional significance]. Genetica 1:102-112 (in Russian).
11. Kenui MG (1979) Rapid Statistical Calculations. Statistika, Moscow, Russia (in Russian).
12. Kyndt F, Probst V, Potet F, et al. (2001) SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 104:3081-3086.
13. Laitinen-Forsblom PJ, Mäkynen P, Mäkynen H, et al. (2006) SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. J Cardiovasc Electrophysiol 17:480-485.
14. Lakin GF (1990) Biometrics. Vysshaya shkola, Moscow, Russia (in Russian).
15. Makielski JC, Ye B, Valdivia CR, et al. (2003) A ubiquitous splice variant and a common polymorphism affect heter-ologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93:821-828.
16. Marangoni S, Di Resta C, Rocchetti M, et al. (2011) A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization. Car-diovasc Res 91:606-616.
17. McKusick VA (1997) Genomics: structural and functional studies of genomes. Genomics 45:244-249.
18. McKusick VA (1998) Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, 12th edition. Johns Hopkins University Press, Baltimore, MD.
19. McNair WP, Ku L, Taylor MR, et al. (2004) SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 110:2163-2167.
20. Neu A, Eiselt M, Paul M, et al. (2010) A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease. Hum Mutat 31:E1609-E1621.
21. Niu DM, Hwang B, Hwang HW, et al. (2006) A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J Med Genet 43:817-821.
22. Olszak-Was̈kiewicz M, Kubik L, Dziuk Rocchetti M (2008) The association between SCN5A, KCNQ1 and KCNE1 gene polymorphisms and complex ventricular arrhythmias in survivors of myocardial infarction. Kardiol Pol 66:845-853.
23. Park HS, Kim YN, Lee YS, et al. (2012) Genetic analysis of SCN5A in Korean patients associated with atrioventricular conduction block. Genomics Inform 10:110-116.
24. Pulley JM, Clayton EW, Bernard GR, et al. (2010) Principles of human subjects protections applied in an opt-out, de-identified biobank. Clin Transl Sci 3:42-48.
25. Rajesh N, Subbiah RN, Campbell TJ, et al. (2004) Inherited cardiac arrhythmia syndromes: what have they taught us about arrhythmias and anti-arrhythmic therapy? Clin Exp Pharmacol Physiol 31:906-912.
26. Schott JJ, Alshinawi C, Kyndt F, et al. (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23:20-21.
27. Shi RM, Ma AQ, Zhang YM, et al. (2009) Gene mutation analysis of a Chinese family of congenital long Q-T syndrome type three. Zhonghua Er Ke Za Zhi 47:926-930 (in Chinese).
28. Smits JP, Koopmann TT, Wilders R, et al. (2005) 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 38:969-981.
29. Tan BH, Valdivia CR, Rok BA, et al. (2005) Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2:741-747.
30. Tan HL, Bink-Boelkens MTE, Bezzina CR, et al. (2001) A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409:1043-1047.
31. Tian XL, Yong SL, Wan X, et al. (2004) Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo Cardiovasc Res 61:256-267.
32. Towbin JA, Vatta M. (2001) Molecular biology and the prolonged QT syndromes. Am J Med 110:385-398.
33. Wang DW, Viswanathan PC, Balser JR, et al. (2002) Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 105:341-346.
34. Ye B, Valdivia CR, Ackerman MJ, et al. (2003) A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 12:187-193.
35. Zaytsev VM, Limflyanskiy VG, Marinkin VI (2003) Priklad-naya meditsinskaya statistika [Applied Medical Statistics]. FOLIANT, Saint Petersburg, Russia (in Russian).