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

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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Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
low-density lipoprotein receptor
apolipoprotein B
familial hypercholesterolemia
whole-genome sequencing
Russia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1589014/full
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