Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease
FH remains significantly underdiagnosed. Only 10.5% of carriers of pathogenic or likely pathogenic variants in the LDLR and APOB genes had a prior diagnosis of FH. Our findings suggest low diagnostic rates for this disorder in Eastern European populations and highlight the need for routine genetic screening of younger individuals. However, further research is needed to assess the clinical applicability and cost-effectiveness of such screening programs.
Authors
- Hanicha Ibragimova
- I. K. Dzhumaniiazova
- S. A. Kraevoy (ORCID: https://orcid.org/0000-0003-1775-9235)
- Н. В. Гомыранова (ORCID: https://orcid.org/0000-0003-4500-0904)
- У.В. Чубыкина (ORCID: https://orcid.org/0000-0003-2760-2792)
- M. V. Ezhov
- S. M. Yudin (ORCID: https://orcid.org/0000-0002-7942-8004)
- Alexey Yu. Fedorov (ORCID: https://orcid.org/0000-0003-4889-8617)
- Z. B. Hasanova
- Yu. S. Vorob’eva
- Anton А. Keskinov (ORCID: https://orcid.org/0000-0001-7378-983X)
- Alexey N. Meshkov (ORCID: https://orcid.org/0000-0001-5989-6233)
- Д. А. Каштанова (ORCID: https://orcid.org/0000-0001-8977-4384)
- Еlena Zelenova (ORCID: https://orcid.org/0000-0003-4604-7261)
- М. В. Иванов (ORCID: https://orcid.org/0000-0001-7829-2486)
- В. В. Макаров (ORCID: https://orcid.org/0000-0001-9495-0266)
- V. S. Yudin (ORCID: https://orcid.org/0000-0002-9199-6258)
- Veronika V. Erema (ORCID: https://orcid.org/0000-0003-0547-3280)
- Olga I. Blinova
- Lorena Matkava (ORCID: https://orcid.org/0009-0004-2039-9618)
- S. А. Boytsov (ORCID: https://orcid.org/0000-0001-6998-8406)
- Yu. O. Aksenova (ORCID: https://orcid.org/0000-0002-6546-2535)
- T. A. Lavrikova (ORCID: https://orcid.org/0009-0000-2410-2923)
- Veronika Skvortsova
- Nayanatara Arun Kumar (ORCID: https://orcid.org/0000-0002-1462-1006)
- T. M. Gurciev
Institutions
- National Research Center for Preventive Medicine (RU)
- Federal Agency for Health and Social Development (RU)
- National Medical Research Center of Cardiology (RU)
- Federal Medical-Biological Agency (RU)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-25
- DOI
- https://doi.org/10.3389/fgene.2025.1589014
- Citations
- 2
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 4.01