A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing
https://doi.org/10.25557/2073-7998.2020.05.33-35
Abstract
The aim of the study is to confirm the association with sudden cardiac death of single-nucleotide polymorphisms rs77270326, rs34643859, identified during own whole-exome sequencing as possible molecular genetic markers of sudden cardiac death. In the group of sudden cardiac death (n = 400, the average age of the dead - 53.2 ± 8.7 years, the proportion of men - 70.9%, women - 29.1%) and the control group (n = 400, average age - 53 , 1 ± 8.3 years, men - 68.3%, women - 31.7%) genotyping of the selected polymorphisms was conducted by PCR-RFLP method according to the authors’ protocols. According to the frequencies of genotypes and alleles of rs77270326 polymorphism, no statistically significant differences were found between the groups (p>0.05). A group of women under the age of 50 revealed a statistically significant decrease in the proportion of carriers of the TT genotype in the group of sudden cardiac death (32.3%) compared with the control group (60.0%) (OR = 0.32, 95% CI 0, 11-0.91, p = 0.04). Thus, the rs77270326 is not associated with sudden cardiac death. For women under the age of 50, the TT genotype of rs34643859 polymorphism is associated with a protective effect against sudden cardiac death.
Keywords
внезапная сердечная смерть,
однонуклеотидный полиморфизм,
полноэкзомное секвенирование,
rs77270326,
rs34643859,
внезапная сердечная смерть,
однонуклеотидный полиморфизм,
полноэкзомное секвенирование,
rs77270326,
rs34643859,
sudden cardiac death,
single nucleotide polymorphism,
whole-exome sequencing,
rs77270326,
rs34643859
About the Authors
A. A. 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
Russian Federation
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
Russian Federation
A. A. 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
Russian Federation
S. K. Maljutina
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
V. P. Novoselov
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
I. A. Rodina
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
O. V. Hamovich
Research Institutе of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
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
Russian Federation
Russian Federation
Review
For citations:
Ivanova A.A., Melnikova E.S., Gurazheva A.A., Maljutina S.K., Novoselov V.P., Rodina I.A., Hamovich O.V., Maksimov V.N. A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing. Medical Genetics. 2020;19(5):33-35. (In Russ.) https://doi.org/10.25557/2073-7998.2020.05.33-35
Views:
356
Email this article 