THE ASSOCIATION OF rs34643859 GENE KCNS1, rs12804550 GENE SCN4B, rs4514993 GENE SCN11A WITH THE SUDDEN CARDIAC DEATH

DOI: https://doi.org/10.29296/24999490-2021-05-05

А.А. Ivanova(1), E.S. Melnikova(1), A.A. Gurazheva(1), S.K. Malutina(1, 2), I.A. Rodina(3), O.V. Khamovich(3), V.P. Novoselov(2,3), V.N. Maksimov(1, 2) 1-Research Institutе of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences, B. Bogatkova, 175/1, Novosibirsk, 630089, Russian Federation; 2-Novosibirsk State Medical University, Krasnyj prospekt, 52, Novosibirsk, 630091, Russian Federation; 3-Novosibirsk Regional Office of Forensic Medical Examination, Nemirovicha-Danchenko str., 134, Novosibisrk, 630087, Russian Federation E-mail: [email protected]

Introduction. Single nucleotide polymorphisms rs34643859 of the KCNS1 gene, rs12804550 of the SCN4B gene, and rs4514993 of the SCN11A gene were revealed in the analysis of the results of whole exome sequencing of a group of young man died by sudden cardiac death (SCD). The aim of the study is to verify single nucleotide polymorphisms rs34643859, rs12804550, rs4514993 as SCD markers in a case-control study using routine molecular genetic methods and investigate the association with SCD of single nucleotide polymorphisms rs34643859, rs12804550, rs4514993. Methods. SCD group (n=400, average age of the deceased cases acoounted for 53.2±8.7 years, the proportion of men – 70.9%, women – 29.1%) was formed using the SCD criteria of the European Society of Cardiology from the anonymous DNA bank of the deceased sudden death (1999–2019). The control group (n=400, mean age – 53.1±8.3 years, men – 68.3%, women – 31.7%) was matched by sex and age to the SCD group from DNA banks of international projects MONICA and HAPIEE of living at the time of researches participants. Genotyping was carried out using the polymerase chain reaction followed by analysis of restriction fragment length polymorphism. Results. There were no statistically significant differences in the frequencies of genotypes and alleles of single nucleotide polymorphisms rs12804550, rs4514993 between the SCD group and the control group (p>0.05). In the group of women under the age of 50 years, there was a statistically significant decrease in carriers of the TT genotype rs34643859 in the SCD group (32.3%) compared with the control group (60.0%) (TT vs TC + CC: OR=0.32, 95% CI: 0.11–0.91, p=0.04). Conclusion. The association of single nucleotide polymorphisms rs12804550 of the SCN4B gene, rs4514993 of the SCN11A gene with SCD has not been confirmed. Single nucleotide polymorphism rs34643859 of the KCNS1 gene is associated with SCD: for women under 50 years of age, the TT polymorphism genotype is associated with a protective effect against SCD.
Keywords: 
Key words. sudden cardiac death, single nucleotide polymorphism, rs34643859 of the KCNS1 gene, rs12804550 of the SCN4B gene, rs4514993 of the SCN11A gene, whole exome sequencing
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