Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease

BackgroundFamilial hypercholesterolemia (FH) is a prevalent hereditary disorder, with its monogenic form linked to an elevated risk of early-onset ischemic heart disease. Evaluating the prevalence and penetrance of pathogenic and likely pathogenic variants associated with this disorder would provide...

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Principais autores:	I. K. Dzhumaniiazova, A. N. Meshkov, V.V. Daniel, M. V. Ezhov, E. A. Zelenova, U. V. Chubykina, D.A. Kashtanova, M. V. Ivanov, L. R. Matkava, O. I. Blinova, N. A. Kumar, A. Y. Fedorov, H. U. Ibragimova, T. A. Lavrikova, Y. O. Aksenova, T. M. Gurciev, N. V. Gomyranova, Y. S. Vorobeva, Z. B. Hasanova, V. S. Yudin, V. V. Makarov, A. A. Keskinov, S. A. Kraevoy, S. A. Boytsov, S. M. Yudin, V. I. Skvortsova
格式:	Artigo
語言:	Inglês
出版:	Frontiers Media S.A. 2025-08-01
叢編:	Frontiers in Genetics
主題:	low-density lipoprotein receptor apolipoprotein B familial hypercholesterolemia whole-genome sequencing Russia
在線閱讀:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1589014/full
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