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

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Title: Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
Authors: Dzhumaniiazova IK; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Meshkov AN; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Budgetary Institution National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthсare of the Russian Federation, Moscow, Russia., Daniel VV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ezhov MV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Zelenova EA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Chubykina UV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Kashtanova DA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ivanov MV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Matkava LR; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Blinova OI; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Kumar NA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Fedorov AY; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ibragimova HU; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Lavrikova TA; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Aksenova YO; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Gurciev TM; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Gomyranova NV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Vorobeva YS; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Hasanova ZB; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Yudin VS; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Makarov VV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Keskinov AA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Kraevoy SA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Boytsov SA; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Yudin SM; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Skvortsova VI; Federal Medical and Biologicl Agency, Moscow, Russia.
Source: Frontiers in genetics [Front Genet] 2025 Aug 25; Vol. 16, pp. 1589014. Date of Electronic Publication: 2025 Aug 25 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: In Process
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  Data: Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
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  Data: <searchLink fieldCode="AU" term="%22Dzhumaniiazova+IK%22">Dzhumaniiazova IK</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Meshkov+AN%22">Meshkov AN</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Budgetary Institution National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthсare of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Daniel+VV%22">Daniel VV</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ezhov+MV%22">Ezhov MV</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zelenova+EA%22">Zelenova EA</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chubykina+UV%22">Chubykina UV</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kashtanova+DA%22">Kashtanova DA</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ivanov+MV%22">Ivanov MV</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Matkava+LR%22">Matkava LR</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Blinova+OI%22">Blinova OI</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kumar+NA%22">Kumar NA</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Fedorov+AY%22">Fedorov AY</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ibragimova+HU%22">Ibragimova HU</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Lavrikova+TA%22">Lavrikova TA</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Aksenova+YO%22">Aksenova YO</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Gurciev+TM%22">Gurciev TM</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Gomyranova+NV%22">Gomyranova NV</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Vorobeva+YS%22">Vorobeva YS</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Hasanova+ZB%22">Hasanova ZB</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Yudin+VS%22">Yudin VS</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Makarov+VV%22">Makarov VV</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Keskinov+AA%22">Keskinov AA</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kraevoy+SA%22">Kraevoy SA</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Boytsov+SA%22">Boytsov SA</searchLink>; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Yudin+SM%22">Yudin SM</searchLink>; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Skvortsova+VI%22">Skvortsova VI</searchLink>; Federal Medical and Biologicl Agency, Moscow, Russia.
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