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The association of rs1008832 CACNA1C, rs4027402 SYNE2, rs2340917 TMEM43, rs58225473 CACNB2 with sudden cardiac death

https://doi.org/10.52727/2078-256X-2022-18-1-38-45

Abstract

Single nucleotide polymorphisms rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene were found by sequencing the clinical exome of a group of men who died of sudden cardiac death (SCD) at the age of 45 years. The aim of the study is to study the association of single nucleotide polymorphisms rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene with SCD in a case-control study using routine molecular genetic analysis. 
Material and methods. SCD group (n = 400, mean age 53.2 ± 8.7 years, 70.9 % men, 29.1 % women) 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, 68.3 % men, 31.7 % women) 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 rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene between the SCD group and the control group (p > 0.05). 
Conclusions. The association of single nucleotide rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene with SCD has not been confirmed. 

About the Authors

А. А. Ivanova
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation

Anastasiya A. Ivanova, candidate of medical sciences, senior researcher, laboratory of molecular genetic research of therapeutic diseases

630089, Novosibirsk, Boris Bogatkov str., 175/1



E. S. Melnikova
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation

Elizaveta S. Melnikova, PhD-student

630089, Novosibirsk, Boris Bogatkov str., 175/1



А. А. Gurazheva
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation

Anna A. Gurazheva, junior researcher, laboratory of molecular genetic research of therapeutic diseases

630089, Novosibirsk, Boris Bogatkov str., 175/1



A. M. Nesterets
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation

Alina M. Nesterets, PhD-student

630089, Novosibirsk, Boris Bogatkov str., 175/1



S. K. Malyutina
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State Medical University
Russian Federation

Sofya K. Malyutina, doctor of medical sciences, professor, head of the laboratory of etiopathogenesis and clinic of internal medicine

630089, Novosibirsk, Boris Bogatkov str., 175/1

630091, Novosibirsk, Krasnyj av., 52



I. A. Rodina
Novosibirsk Regional Office of Forensic Medical Examination
Russian Federation

Irina A. Rodina, candidate of medical sciences, doctor of forensic medicine

630087, Novosibirsk, Nemirovich-Danchenko str., 134



O. V. Khamovich
Novosibirsk Regional Office of Forensic Medical Examination
Russian Federation

Olesya V. Khamovich, candidate of medical sciences, doctor of forensic medicine

630087, Novosibirsk, Nemirovich-Danchenko str., 134



V. P. Novoselov
Novosibirsk State Medical University; Novosibirsk Regional Office of Forensic Medical Examination
Russian Federation

Vladimir P. Novoselov, doctor of medical sciences, professor

630091, Novosibirsk, Krasnyj av., 52

630087, Novosibirsk, Nemirovich-Danchenko str., 134



V. N. Maksimov
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State Medical University
Russian Federation

Vladimir N. Maksimov, doctor of medical sciences, professor, head of the laboratory of molecular genetic studies of therapeutic diseases

630089, Novosibirsk, Boris Bogatkov str., 175/1

630091, Novosibirsk, Krasnyj av., 52



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For citations:


Ivanova А.А., Melnikova E.S., Gurazheva А.А., Nesterets A.M., Malyutina S.K., Rodina I.A., Khamovich O.V., Novoselov V.P., Maksimov V.N. The association of rs1008832 CACNA1C, rs4027402 SYNE2, rs2340917 TMEM43, rs58225473 CACNB2 with sudden cardiac death. Ateroscleroz. 2022;18(1):38-45. (In Russ.) https://doi.org/10.52727/2078-256X-2022-18-1-38-45

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