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Polygenic risk score development and their application for differential diagnostics of lipid disorders
https://doi.org/10.25557/2073-7998.2025.06.55-56
Abstract
Introduction. Polygenic risk score (PRS) development allow to evaluate polygenic contribution to the phenotype, particularly, to blood lipid levels. However, PRS applicability to the Russian population was rarely estimated.
Aim. To evaluate the applicability of already existent PRS and to develop own PRS for blood lipid levels for the Russian population; to study the possibility of PRS application for differential diagnostics.
Methods. Populational samples from Ivanovo (n=1673) and Vologda (n=817) regions from the ESSE-RF study, sample of patients with linical diagnosis familial hypercholesterolemia (FH) (n=353) and prominent hypertriglyceridemia (HTG) (n=148) were used in the study.
Results. Coefficient of determination was shown to increase by 2-4% when developing own PRS compared to existing ones, depending on the phenotype studied. Such PRS can be applied for differential diagnostics of patients with familial FH and HTG in the population.
Conclusions. Blood lipid PRS are applicable for the inhabitants of the European part of Russia. Such PRS can be used for differential diagnostics.
About the Authors
M. Zaicenoka
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation; Moscow Institute of Physics and Technology
Russian Federation
Russian Federation
Maria Zaicenoka.
10, bld. 3, Petroverigsky per., Moscow, 101000; 9, Institutskiy per., Dolgoprudny, 141701
A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101000
A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101000
A. I. Ershova
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101000
V. E. Ramensky
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101000
O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, bld. 3, Petroverigsky per., Moscow, 101000
References
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Review
For citations:
Zaicenoka M., Meshkov A.N., Kiseleva A.V., Ershova A.I., Ramensky V.E., Drapkina O.M. Polygenic risk score development and their application for differential diagnostics of lipid disorders. Medical Genetics. 2025;24(6):55-56. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.55-56
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