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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. 

 

 

 

 

 

 

 

 
 

Sequence Alterations of I(Ks) 

Potassium Channel Genes in 

Kazakhstani Patients with Atrial 

Fibrillation 

 

Ainur Akilzhanova1, Saule 

Rakhimova1, Zhannur Abilova1, 

Omirbek Nuralinov2, Gulzhaina 

Rashbayeva2, Ayan 

Abdrakhmanov2, Mahabbat 

Bekbosynova2  

 
1Center for Life Sciences, Nazarbayev 
University, Astana, Kazakhstan; 
2National Scientific Cardiac Surgery 
Center, Astana, Kazakhstan 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Vol. 3, Suppl. (2014)   |   ISSN 2166-7403 (online)    

DOI 10.5195/cajgh.2014.147   |   http://cajgh.pitt.edu 

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AKILZHANOVA 

 

 

This work is licensed under a Creative Commons Attribution 4.0 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 3, Suppl. (2014)  |  ISSN 2166-7403 (online)  |  DOI 10.5195/cajgh.2014.147  |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction. Atrial fibrillation (AF) is the most common sustained arrhythmia, and it results in significant morbidity and 

mortality. However, the pathogenesis of AF remains unclear to date. Recently, more pieces of evidence indicated that AF is a 

multifactorial disease resulting from the interaction between environmental factors and genetics. Recent studies suggest that 

genetic mutation of the slow delayed rectifier potassium channel (I(Ks)) may underlie AF.  

Objective. To investigate sequence alterations of I(Ks) potassium channel genes KCNQ1, KCNE1 and KCNE2 in Kazakhstani 

patients with atrial fibrillation. 

Methods. Genomic DNA of 69 cases with atrial fibrillation and 27 relatives were analyzed for mutations in all protein-coding 

exons and their flanking splice site regions of the genes KCNQ1 (NM_000218.2 and NM_181798.1), KCNE1 (NM_000219.2), 

and KCNE2 (NM_172201.1) using bidirectional sequencing on the ABI 3730xL DNA Analyzer (Applied Biosystems, Foster City, 

CA, USA).  

Results. In total, a disease-causing mutation was identified in 39 of the 69 (56.5%) index cases. Of these, altered sequence variants 

in the KCNQ1 gene accounted for 14.5% of the mutations, whereas a KCNE1 mutation accounted for 43.5% of the mutations and 

KCNE2 mutation accounted for 1.4% of the mutations. The majority of the distinct mutations were found in a single case (80%), 

whereas 20% of the mutations were observed more than once. We found two sequence variants in KCNQ1 exon 13 (S546S 

G1638A) and exon 16 (Y662Y, C1986T) in ten patients (14.5%). In KCNE1 gene in exon 3 mutation, S59G A280G was observed 

in 30 of 69 patients (43.5%) and KCNE2 exon 2 T10K C29A in 1 patient (1.4%). Genetic cascade screening of 27 relatives to the 

69 index cases with an identified mutation revealed 26.9% mutation carriers  who were at risk of cardiac events such as syncope 

or sudden unexpected death.  

Conclusion. In this cohort of Kazakhstani index cases with AF, a disease-causing mutation was identified in 56.5 % of the referred 

patients. Further screening of mutations in other genes encoding cardiac ion channels is needed to clarify possible disease causing 

and founder mutations in Kazakhstani atrial fibrillation patients. 

Keywords: atrial fibrillation, delayed rectifier potassium channel, genetic analysis 

 

 

 

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