Genetic polymorphisms and haplotypes of the human cardiac sodium channel α subunit gene (SCN5A) in Japanese and their association with arrhythmia

Annals of Human Genetics

Volumn 69, Issue 4, 2005, Pages 413-428

  Maekawa, Keiko ^a   Saito, Y ^a   Ozawa, S ^a   Adachi Akahane, S ^b   Kawamoto, M ^c   Komamura, K ^d   Shimizu, W ^d   Ueno, K ^d   Kamakura, S ^d   Kamatani, N ^c   Kitakaze, M ^d   Sawada, J ^a  

^a NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Cardiac arrhythmia; Haplotype; Japanese; SCN5A; SNP

Indexed keywords

ALANINE; ARGININE; GENE PRODUCT; GLYCINE; HISTIDINE; LEUCINE; PROTEIN SCN5A; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ADULT; ALPHA CHAIN; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HEART ARRHYTHMIA; HUMAN; INTRON; JAPAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ARRHYTHMIA; EXONS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTRONS; JAPAN; LINKAGE DISEQUILIBRIUM; MYOCARDIUM; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, SECONDARY; SODIUM CHANNELS; VARIATION (GENETICS);

EID: 22244447116     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8817.2005.00167.x     Document Type: Article

References (30)

1. Ackerman, M. J., Siu, B. L., Sturner, W. Q., Tester, D. J., Valdivia, C. R., Makielski, J. C. & Towbin, J. A. (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286, 2264-2269.
2. Akai, J., Makita, N., Sakurada, H., Shirai, N., Ueda, K., Kitabatake, A., Nakazawa, K., Kimura, A. & Hiraoka, M. (2000) A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett 479, 29-34.
3. Balser, J. R. (1999) Structure and function of the cardiac sodium channels. Cardiovasc Res 42, 327-338.
4. Balser, J. R. (2001) Inherited sodium channelopathies: novel therapeutic and proarrhythmic molecular mechanisms. Trends Cardiovasc Med 11, 229-237.
5. Bezzina, C. R., Pook, M. B. & Wilde, A. A. (2001) Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 49, 257-271.
6. Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D., Moya, A., Borggrefe, M., Breithardt, G., Ortiz-Lopez, R., Wang, Z., Antzelevitch, C., O'Brien, R. E., Schulze-Bahr, E., Keating, M. T., Towbin, J. A. & Wang, Q. (1998) Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392, 293-296.
7. Cormier, J. W., Rivolta, I., Tateyama, M., Yang, A. S. & Kass, R. S. (2002) Secondary structure of the human cardiac Na + channel C terminus: evidence for a role of helical structures in modulation of channel inactivation. J Biol Chem 277, 9233-9241.
8. Fujiki, A., Usui, M., Nagasawa, H., Mizumaki, K., Hayashi, H. & Inoue, H. (1999) ST segment elevation in the right precordial leads induced with class IC antiarrhythmic drugs: insight into the mechanism of Brugada syndrome. J Cardiovasc Electrophysiol 10, 214-218.
9. Gellens, M. E., George, A. L., Jr., Chen, L. Q., Chahine, M., Horn, R., Barchi, R. L. & Kallen, R. G. (1992) Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 89, 554-558.
10. Iwasa, H., Itoh, T., Nagai, R., Nakamura, Y. & Tanaka, T. (2000) Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet 45, 182-183.
11. Kitamura, Y., Moriguchi, M., Kaneko, H., Morisaki, H., Morisaki, T., Toyama, K. & Kamatani, N. (2002) Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm. Ann Hum Genet 66, 183-193.
12. Makielski, J. C., Ye, B., Valdivia, C. R., Pagel, M. D., Pu, J., Tester, D. J. & Ackerman, M. J. (2003) A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93, 821-828.
13. Makita, N., Horie, M., Nakamura, T., Ai, T., Sasaki, K., Yokoi, H., Sakurai, M., Sakuma, I., Otani, H., Sawa, H. & Kitabatake, A. (2002) Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation. Circulation 106, 1269-1274.
14. Mok, N. S., Priori, S. G., Napolitano, C., Chan, K. K., Bloise, R., Chan, H. W., Fung, W. H., Chan, Y. S., Chan, W. K., Lam, C., Chan, N. Y. & Tsang, H. H. (2004) Clinical profile and genetic basis of Brugada syndrome in the Chinese population. Hong Kong Med J 10, 32-37.
15. Paulussen, A. D., Gilissen, R. A., Armstrong, M., Doevendans, P. A., Verhasselt, P., Smeets, H. J., Schulze-Bahr, E., Haverkamp, W., Breithardt, G., Cohen, N. & Aerssens, J. (2004) Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med 82, 182-188.
16. Priori, S. G., Napolitano, C., Gasparini, M., Pappone, C., Della Bella, P., Giordano, U., Bloise, R., Giustetto, C., De Nardis, R., Grillo, M., Ronchetti, E., Faggiano, G. & Nastoli, J. (2002) Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 105, 1342-1347.
17. Schott, J. J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A., Escande, D., Mannens, M. M. & Le Marec, H. (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23, 20-21.
18. Schulze-Bahr, E., Eckardt, L., Breithardt, G., Seidl, K., Wichter, T., Wolpert, C., Borggrefe, M. & Haverkamp, W. (2003) Sodium channel gene (SCN5A) mutation in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat 21, 651-652.
19. Schwartz, P. J., Priori, S. G., Locati, E. H., Napolitano, C., Cantu, F., Towbin, J. A., Keating, M. T., Hammoude, H., Brown, A. M. & Chen, L. S. (1995) Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 92, 3381-3386.
20. Splawski, I., Timothy, K. W., Tateyama, M., Clancy, C. E., Malhotra, A., Beggs, A. H., Cappuccio, F. P., Sagnella, G. A., Kass, R. S. & Keating, M. T. (2002) Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297, 1333-1336.
21. Takahata, T., Yasui-Furukori, N., Sasaki, S., Igarashi, T., Okumura, K., Munakata, A. & Tateishi, T. (2003) Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci 72, 2391-2399.
22. Tan, H. L., Bezzina, C. R., Smits, J. P., Verkerk, A. O. & Wilde, A. A. (2003) Genetic control of sodium channel function. Cardiovasc Res 57, 961-973.
23. Vatta, M., Dumaine, R., Varghese, G., Richard, T. A., Shimizu, W., Aihara, N., Nademanee, K., Brugada, R., Brugada, J., Veerakul, G., Li, H., Bowles, N. E., Brugada, P., Antzelevitch, C. & Towbin, J. A. (2002) Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 11, 337-345.
24. Viswanathan, P. C., Benson, D. W. & Balser, J. R. (2003) A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 111, 341-346.
25. Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A. & Keating, M. T. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811.
26. Wang, Q., Li, Z., Shen, J. & Keating, M. T. (1996) Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34, 9-16.
27. Yang, P., Kanki, H., Drolet, B., Yang, T., Wei, J., Viswanathan, P. C., Hohnloser, S. H., Shimizu, W., Schwartz, P. J., Stanton, M., Murray, K. T., Norris, K., George, A. L., Jr. & Roden, D. M. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 105, 1943-1948.
28. Yang, P., Kupershmidt, S. & Roden, D. M. (2004) Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter. Cardiovasc Res 61, 56-65.
29. Ye, B., Valdivia, C. R., Ackerman, M. J. & Makielski, J. C. (2003) A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 12, 187-193.
30. Zhao, J. H., Curtis, D. & Sham, P. C. (2000) Model-free analysis and permutation tests for allelic associations. Hum Hered 50, 133-139.