Study of genetic markers of cardiac arrhythmias in Kazakhstan


 

 

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Study of genetic markers of 

cardiac arrhythmias in Kazakhstan 

 

Makhabbat Bekbossynova1, Ainur 

Akilzhanova2, Zhannur Abilova2, 

Ayan Abdrahmanov1, Omirbek 

Nuralinov1 

 
1National Research Center for Cardiac 

Surgery, Astana, Kazakhstan; 
2Department for Organization and 

Development of Genomic and 

Personalized Medicine, Center for Life 

Sciences, Nazarbayev University, Astana, 

Kazakhstan 

 

Vol. 2, Suppl. (2013)   |   ISSN 2166-7403 (online)    

DOI 10.5195/cajgh.2013.85   |   http://cajgh.pitt.edu 

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BEKBOSSYNOVA 

 

 

This work is licensed under a Creative Commons Attribution 3.0 United States License. 

 

This journal is published by the University Library System of the University of Pittsburgh as part  

of its D-Scribe Digital Publishing Program and is cosponsored by the University of Pittsburgh Press. 

 

Central Asian Journal of Global Health 

Volume 2, Suppl. (2013)  |  ISSN 2166-7403 (online)  |  DOI 10.5195/cajgh.2013.85  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: Cardiac arrhythmias are the most common cause of mortality and sudden cardiac death worldwide. In the past 

decade, genetic factors underlying arrhythmogenic diseases have been revealed and given novel insights in to the understanding 

and treatment of arrhythmias predisposing one to sudden cardiac death.    

Material and methods: We conducted a pilot genetic screening of two patients with catecholaminergic polymorphic ventricular 

tachycardia (CPVT) and 14 patients with ventricular tachycardia (VT) for genetic variants in the human ryanodine receptor gene 

2 (hRYR2). The most relevant 45 hot-spot exons of hRYR2 were amplified by polymerase chain reaction (PCR) and directly 

sequenced. 

Results:  One novel mutation in a CPVT patient (c.A13892T; p.D4631V) and a novel mutation in a VT patient (c.G5428C; 

p.V1810L) were identified. Both variants are located at phylogenetically conserved positions and predicted pathogenesis. Three 

known synonymous SNPs (rs3765097, rs2253273, and TMP ESp1 237664067) were detected in the study group. No further 

variants within the target regions were detected in the study group.  

Conclusion: The results of study can be applied to risk asssessment for life-threatening arrhythmias and assist in development of 

appropriate strategies for prevention of sudden cardiac death. The implementation of these strategies would assist in the 

management of patients with genetically determined arrhythmias in Kazakhstan.   

Keywords: cardiac arrhythmia, genetic screening, genetic markers, Kazakhstan 

 

 

 

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