Polymorphisms of the SCN10A Gene in Patients With Sick Sinus Syndrome
https://doi.org/10.18087/cardio.2018.4.10096
Abstract
Purpose: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS). Materials and methods. We examined 109 patients with ISSS, 59 their healthy 1-st-, 2-nd-, and 3-rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease. All patients underwent cardiologic examination and molecular genetic testing of DNA. Results. We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group. In addition, this genotype significantly prevailed among men with SSSU in comparison with the control group. Conclusion. Genotype AA of the SCN10A gene is associated with a predisposition to the development of ISSS.
About the Authors
S. Yu. Nikulina
ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФ
Russian Federation
Russian Federation
Olga V. Marilovceva
ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФ
Russian Federation
Russian Federation
A. A. Chernova
ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФ
Russian Federation
Russian Federation
S. S. Tret’Jakova
ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФ
Russian Federation
Russian Federation
D. A. Nikulin
ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФ
Russian Federation
Russian Federation
V. N. Maksimov
Научно-исследовательский институт терапии и профилактической медицины - ФГБУН «Федеральный исследовательский центр Институт цитологии и генетики» СО РАН
Russian Federation
Russian Federation
References
1. Iio C., Ogimoto A., Nagai T. et al. Association Between Genetic Variation in the SCN10A Gene and Cardiac Conduction Abnormalities in Patients With Hypertrophic Cardiomyopathy. J Int Heart J 2015;56 (4) 421-427.
2. Hasdemir C., Payzin S., Kocabas U. et al. High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. Heart Rhythm 2015;12 (7):1584-1594.
3. Fukuyama M., Ohno S., Makiyama T. et al. Novel SCN10A variants associated with Brugada syndrome [Electronic resource]. Europace 2015. URL: http://europace.oxfordjournals.org/content/euro-pace/early/2015 /04/03 /europace. euv078. full. pdf.
4. Behr E. R., Savio-Galimberti E., Barc J. et al. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res 2015;106 (3):520-529.
5. Le Scouarnec S., Karakachoff M., Gourraud J. B. et al. Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet 2015;24 (10):2757-2763.
6. Hu D., Barajas-Martinez H., Pfeiffer R. et al. Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. J Am Coll Cardiol 2014;64 (1):66-79.
7. Bezzina C. R., Barc J., Mizusawa Y. et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syn drome, a rare disease with high risk of sudden cardiac death. Nat Genet 2013;45 (9):1044-1049.
8. Park D. S., Fishman G. I. Navigating through a complex landscape: SCN10A and cardiac conduction. J Clin Invest 2014;124 (4):1460-1462.
9. Smith J. G., Magnani J. W., Palmer C. et al. Genome-wide association studies of the PR interval in African Americans. PLoS Genet 2011;7 (2):e1001304.
10. Denny J. C., Ritchie M. D., Crawford D. C. et al. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation 2010;122 (20):2016-2021.
11. Yang T., Atack T. C., Stroud D. M. et al. Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. Circ Res 2012;111 (3):322-323.
12. Andreasen L., Nielsen J. B., Darkner S. et al. Brugada syndrome risk loci seem protective against atrial fibrillation. Eur J Hum Genet 2014;22 (12):1357-1361.
13. Delaney J. T., Muhammad R., Shi Y. et al. Common SCN10A variants modulate PR interval and heart rate response during atrial fibrillation. Europace 2014;16 (4):485-490.
14. Pfeufer A., van Noord C., Marciante K. D. et al. Genome-wide association study of PR interval. Nat Genet 2010;42 (2):153-159.
Review
For citations:
Nikulina S.Yu., Marilovceva O.V., Chernova A.A., Tret’Jakova S.S., Nikulin D.A., Maksimov V.N. Polymorphisms of the SCN10A Gene in Patients With Sick Sinus Syndrome. Kardiologiia. 2018;58(4):53-59. (In Russ.) https://doi.org/10.18087/cardio.2018.4.10096
Views:
1332
Email this article 
Post a Comment 
