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Genetic factors of familial hypercholesterolemia variability
https://doi.org/10.25557/2073-7998.2025.06.98-100
Abstract
Introduction. The manifestation of monogenic causes of familial hypercholesterolemia (FH) is influenced not only by lifestyle but also by polygenic background and additional variants in lipid metabolism genes.
Aim. To study the dependence of low-density lipoprotein cholesterol (LDL-С) levels on polygenic background and variants in lipid metabolism genes in patients with causal variants in LDLR, APOB, PCSK9 genes.
Materials and methods. The study was conducted on 432 patients: 364 with variants in LDLR gene, 68 carriers of APOB variant, and two carriers of PCSK9 variant.
Results. Significant correlations of LDL-C levels in patients with variants associated with FH with polygenic background based on the data of genetic risk scores were established.
Conclusions. When predicting the further course of FH, it is necessary to take into account not only the identified monogenic causes, but also the patient’s genetic features.
About the Authors
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
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
10, bld. 3, Petroverigsky per., Moscow, 101000; 9, Institutskiy per., Dolgoprudny, 141701
V. I. Mikhailina
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
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
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
1. Zaychenoka M., Meshkov A.N., Kiseleva A.V., et al. Ispol’zovaniye shkal geneticheskogo riska dlya differentsial’noy diagnostiki u lits s klinicheskim diagnozom semeynaya giperkholesterinemiya [Use of polygenic risk scores for differential diagnostics for patients with clinical diagnosis of familial hypercholesterolemia]. Kardiovaskulyarnaya terapiya i profilaktika [Cardiovascular Therapy and Prevention]. 2024;23(12):4251. (In Russ.)
2. Willer C.J., Schmidt E.M., Sengupta S. et al. Discovery and refinement of loci associated with lipid levels. Nat. Genet. 2013;45(11):1274–1283.
Review
For citations:
Meshkov A.N., Zaicenoka M., Mikhailina V.I., Ershova A.I., Kiseleva A.V., Ramensky V.E., Drapkina O.M. Genetic factors of familial hypercholesterolemia variability. Medical Genetics. 2025;24(6):98-100. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.98-100
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