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Association of Notch signaling pathway genes with the development of anemia
https://doi.org/10.25557/2073-7998.2025.05.71-73
Abstract
We investigated the role of the cumulative effect of rare high-impact (HI) genetic variants in Notch pathway gene sets on the development of anemia in two cohorts of patients at high risk for chronic or acute critical illness: patients with traumatic brain injury (TBI) admitted for rehabilitation and patients with acute COVID-19. In both patient cohorts, an association was found between the risk of severe/moderate anemia and the cumulative effect of HI variants in Notch pathway genes. In patients with COVID-19, HI variants in Notch pathway genes affected RBC, HGB, and HCT levels.
Supporting agencies: This work was supported by the state assignment of the Ministry of Education and Science of Russia No. FGWS-2025-0008 «Critical hypoxia – leading mechanisms of development, personalized diagnosis and treatment».
About the Authors
A. S. Gracheva
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR);
Institute of General Genetics of the Russian Academy of Sciences
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
3, Gubkin st., Moscow, 119991, Russian Federation
D. A. Kashatnikova
Institute of General Genetics of the Russian Academy of Sciences
Russian Federation
Russian Federation
3, Gubkin st., Moscow, 119991, Russian Federation
I. V. Redkin
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR)
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
V. E. Zakharchenko
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR)
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
T. N. Krylova
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR)
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
A. N. Kuzovlev
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR)
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
L. E. Salnikova
Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology (FNKC RR);
Institute of General Genetics of the Russian Academy of Sciences;
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
25-2, Petrovka st., Moscow, 107031, Russian Federation
3, Gubkin st., Moscow, 119991, Russian Federation
1, Samory Mashela st., Moscow, 117997, Russian Federation
References
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Review
For citations:
Gracheva A.S., Kashatnikova D.A., Redkin I.V., Zakharchenko V.E., Krylova T.N., Kuzovlev A.N., Salnikova L.E. Association of Notch signaling pathway genes with the development of anemia. Medical Genetics. 2025;24(5):71-73. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.71-73
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