Role of biobanks in studying frequencies of alleles associated with COVID-19 severity and outcome in the Russian population
S. V. Apalko,
V. S. Shimansky,
O. S. Popov,
N. N. Sushentseva,
S. V. Mosenko,
A. Yu. Asinovskaya,
S. G. Shcherbak https://doi.org/10.15829/1728-8800-2025-4570
EDN: SJMHVP
Abstract
Aim. To analyze the frequency and potential association with the severity and outcome of coronavirus disease (COVID-19) of MUC5B rs35705950, TERT rs2736100, TLR3 rs3775290, and TLR7 rs179008 polymorphisms.
Material and methods. The study included blood samples from 4783 patients diagnosed with COVID-19 from the biobank of City Hospital № 40 (St. Petersburg). All patients signed informed consent to participate in the study. Genotyping was performed using real-time polymerase chain reaction. Statistical analysis included Fisher's exact test and multiple regression.
Results. Polymorphism frequencies are comparable with the Genome Aggregation Database (gnomAD). Among all polymorphisms, only the AA genotype of the TLR7 gene showed a significant association with severe COVID-19. Two following potentially significant genotype interactions were also identified: TERT AA + TLR7 T in men and TERT CC + TLR3 CT in women.
Conclusion. The results highlight the value of local biobanks for studying population-based patterns of allele distribution and identifying genetic factors influencing the course of infectious diseases.
About the Authors
S. V. Apalko
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
V. S. Shimansky
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
O. S. Popov
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
N. N. Sushentseva
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
S. V. Mosenko
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
A. Yu. Asinovskaya
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
S. G. Shcherbak
City Hospital № 40 of Kurortny District
Russian Federation
Russian Federation
Borisova St., 9, lit. B, Sestroretsk, Saint Petersburg, 197706
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Supplementary files
What is already known about the subject?
- Genetic variations in innate immune genes, including TLR receptors, as well as in genes regulating the interferon response and inflammation, may specify the COVID-19 severity. Polymorphisms can influence receptor sensitivity to viral ribonucleic acid, NF-κB activation, and cytokine synthesis. Population differences in allele frequencies limit the applicability of international data to a Russian sample.
What might this study add?
- The AA TLR7genotype is associated with a more severe COVID-19 course, consistent with its role in viral ribonucleic acid recognition. Genotype-genotype interactions were detected, likely related to the modulation of NF-κB-dependent pathways when TERT gene variants are combined with TLR7 and TLR3. These data highlight the importance of local biobanks for identifying the molecular genetic determinants of severe infection.
Review
For citations:
Apalko S.V., Shimansky V.S., Popov O.S., Sushentseva N.N., Mosenko S.V., Asinovskaya A.Yu., Shcherbak S.G. Role of biobanks in studying frequencies of alleles associated with COVID-19 severity and outcome in the Russian population. Cardiovascular Therapy and Prevention. 2025;24(11):4570. (In Russ.) https://doi.org/10.15829/1728-8800-2025-4570. EDN: SJMHVP
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