{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T21:01:56Z","timestamp":1788123716103,"version":"build-2803163510"},"reference-count":39,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,6]],"date-time":"2021-01-06T00:00:00Z","timestamp":1609891200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"State assignment","award":["\u0410\u0410\u0410\u0410-\u041018-118041790111-0"],"award-info":[{"award-number":["\u0410\u0410\u0410\u0410-\u041018-118041790111-0"]}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["20-54-12008"],"award-info":[{"award-number":["20-54-12008"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics of FH in a Russian population is poorly understood. The aim of this study is to present data on the spectrum of LDLR, APOB, and PCSK9 gene variants in a cohort of 595 index Russian patients with FH, as well as an additional systematic analysis of the literature for the period of 1995\u20132020 on LDLR, APOB and PCSK9 gene variants described in Russian patients with FH. We used targeted and whole genome sequencing to search for variants. Accordingly, when combining our novel data and the data of a systematic literature review, we described 224 variants: 187 variants in LDLR, 14 variants in APOB, and 23 variants in PCSK9. A significant proportion of variants, 81 of 224 (36.1%), were not described earlier in FH patients in other populations and may be specific for Russia. Thus, this study significantly supplements knowledge about the spectrum of variants causing FH in Russia and may contribute to a wider implementation of genetic diagnostics in FH patients in Russia.<\/jats:p>","DOI":"10.3390\/genes12010066","type":"journal-article","created":{"date-parts":[[2021,1,6]],"date-time":"2021-01-06T09:15:16Z","timestamp":1609924516000},"page":"66","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5989-6233","authenticated-orcid":false,"given":"Alexey","family":"Meshkov","sequence":"first","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Ershova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4765-8021","authenticated-orcid":false,"given":"Anna","family":"Kiseleva","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Zotova","sequence":"additional","affiliation":[{"name":"Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, 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Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Malyshev","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana","family":"Rozhkova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Blokhina","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Limonova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasily","family":"Ramensky","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"},{"name":"Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6221-3659","authenticated-orcid":false,"given":"Mikhail","family":"Divashuk","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zukhra","family":"Khasanova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bukaeva","sequence":"additional","affiliation":[{"name":"Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Kurilova","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Skirko","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Pokrovskaya","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeriya","family":"Mikova","sequence":"additional","affiliation":[{"name":"Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Snigir","sequence":"additional","affiliation":[{"name":"Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexsandra","family":"Akinshina","sequence":"additional","affiliation":[{"name":"Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, 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Rev. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1161\/CIRCULATIONAHA.119.044795","article-title":"Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease","volume":"141","author":"Hu","year":"2020","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.1016\/j.jacc.2020.03.057","article-title":"Worldwide prevalence of familial hypercholesterolemia: Meta-analyses of 11 million subjects","volume":"75","author":"Beheshti","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2146","DOI":"10.1093\/eurheartj\/ehu274","article-title":"Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society","volume":"35","author":"Cuchel","year":"2014","journal-title":"Eur. Heart J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1002\/humu.23634","article-title":"ClinVar database of global familial hypercholesterolemia-associated DNA variants","volume":"39","author":"Iacocca","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Zakharova, F.M., Damgaard, D., Mandelshtam, M.Y., Golubkov, V.I., Nissen, P.H., Nilsen, G.G., Stenderup, A., Lipovetsky, B.M., Konstantinov, V.O., and Denisenko, A.D. (2005). Familial hypercholesterolemia in St.-Petersburg: The known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med. Genet., 6.","DOI":"10.1186\/1471-2350-6-6"},{"key":"ref_7","first-page":"23","article-title":"Familial hypercholesterolemia in Russia: Genetic and phenotypic characteristics","volume":"81","author":"Meshkov","year":"2009","journal-title":"Ter. Arkhiv"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Komarova, T.Y., Korneva, V.A., Kuznetsova, T.Y., Golovina, A.S., Vasilyev, V.B., and Mandelshtam, M.Y. (2013). Familial hypercholesterolemia mutations in Petrozavodsk: No similarity to St. Petersburg mutation spectrum. BMC Med. Genet., 14.","DOI":"10.1186\/1471-2350-14-128"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Semenova, A.E., Sergienko, I.V., Garc\u00eda-Giustiniani, D., Monserrat, L., Popova, A.B., Nozadze, D.N., and Ezhov, M.V. (2020). Verification of underlying genetic cause in a cohort of Russian patients with familial hypercholesterolemia using targeted next generation sequencing. J. Cardiovasc. Dev. Dis., 7.","DOI":"10.3390\/jcdd7020016"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"9375818","DOI":"10.1155\/2017\/9375818","article-title":"Cholesterol levels in genetically determined familial hypercholesterolaemia in Russian Karelia","volume":"2017","author":"Korneva","year":"2017","journal-title":"Cholesterol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.atherosclerosis.2003.11.010","article-title":"Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia","volume":"173","author":"Civeira","year":"2004","journal-title":"Atherosclerosis"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Lin, M.F., Rodeh, O., Penn, J., Bai, X., Reid, J.G., Krasheninina, O., and Salerno, W.J. (2018). GLnexus: Joint variant calling for large cohort sequencing. bioRxiv, 343970.","DOI":"10.1101\/343970"},{"key":"ref_13","unstructured":"(2020, December 10). Smoove. Available online: https:\/\/github.com\/brentp\/smoove."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1101\/gr.218032.116","article-title":"The Mobile Element Locator Tool (MELT): Population-scale mobile element discovery and biology","volume":"27","author":"Gardner","year":"2017","journal-title":"Genome Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/s41592-019-0430-y","article-title":"trackViewer: A Bioconductor package for interactive and integrative visualization of multi-omics data","volume":"16","author":"Ou","year":"2019","journal-title":"Nat. Methods"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/gim.2017.151","article-title":"Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: Application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis","volume":"20","author":"Chora","year":"2018","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmedgenet-2016-104054","article-title":"The UCL low-density lipoprotein receptor gene variant database: Pathogenicity update","volume":"54","author":"Leigh","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1134\/S1022795407090116","article-title":"Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong founder effect","volume":"43","author":"Zakharova","year":"2007","journal-title":"Russ. J. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1023\/A:1012300632671","article-title":"Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the Low-Density Lipoprotein Receptor gene in patients with familial hypercholesterolemia from St. Petersburg","volume":"27","author":"Zakharova","year":"2001","journal-title":"Russ. J. Bioorganic Chem."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1007\/s10517-013-2159-4","article-title":"\u201cFinnish\u201d mutations in LDL Receptor gene: A rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk","volume":"155","author":"Komarova","year":"2013","journal-title":"Bull. Exp. Biol. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1086\/320123","article-title":"Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews","volume":"68","author":"Durst","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1006\/mgme.1997.2614","article-title":"Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia","volume":"63","author":"Chakir","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"ref_25","first-page":"49","article-title":"Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene","volume":"92","author":"Korneva","year":"2014","journal-title":"Klin. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/mgme.1998.2762","article-title":"Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia","volume":"65","author":"Chakir","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"ref_27","first-page":"50","article-title":"A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene","volume":"53","author":"Korneva","year":"2013","journal-title":"Kardiologiia"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1023\/A:1011973817437","article-title":"Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg","volume":"37","author":"Tatishcheva","year":"2001","journal-title":"Russ. J. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1134\/S1022795413040066","article-title":"New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk","volume":"49","author":"Komarova","year":"2013","journal-title":"Russ. J. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1134\/S1022795408100074","article-title":"The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population","volume":"44","author":"Voevoda","year":"2008","journal-title":"Russ. J. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<255::AID-HUMU6>3.0.CO;2-E","article-title":"Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia","volume":"12","author":"Mandelshtam","year":"1998","journal-title":"Hum. Mutat."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"80","DOI":"10.24075\/brsmu.2018.061","article-title":"Targeted sequencing in patients with clinically diagnosed hereditary lipid metabolism disorder and acute coronary syndrome","volume":"5","author":"Averkova","year":"2018","journal-title":"Bull. RSMU"},{"key":"ref_33","first-page":"12","article-title":"The Familial Hypercholesterolemia caused by a novel human Low Density Lipoprotein Receptor Gene mutation c.1327 T>C (p.W433R)","volume":"57","author":"Korneva","year":"2017","journal-title":"Kardiologiia"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e227","DOI":"10.1016\/j.atherosclerosis.2017.06.740","article-title":"Analysis of the LDLR gene variability in patients with Familial Hypercholesterolemia in Russia using targeted high throughput resequencing","volume":"263","author":"Shakhtshneider","year":"2017","journal-title":"Atherosclerosis"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1159\/000022819","article-title":"Detection of the apoB-3500 mutation in a Russian family with coronary heart disease","volume":"48","author":"Pogoda","year":"1998","journal-title":"Hum. Hered."},{"key":"ref_36","first-page":"e285","article-title":"Analysis of the LDLR, APOB, PCSK9 and LDLRAP1 genes variability in patients with Familial Hypercholesterolemia in West Siberia using targeted high throughput resequencing","volume":"287","author":"Shakhtshneider","year":"2019","journal-title":"Atherosclerosis"},{"key":"ref_37","first-page":"58","article-title":"Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia","volume":"44","author":"Meshkov","year":"2004","journal-title":"Kardiologiia"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/humu.1380020404","article-title":"A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg","volume":"2","author":"Mandelshtam","year":"1993","journal-title":"Hum. Mutat."},{"key":"ref_39","first-page":"10","article-title":"Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia","volume":"45","author":"Meshkov","year":"2005","journal-title":"Kardiologiia"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/1\/66\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:07:34Z","timestamp":1760159254000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/1\/66"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,6]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1]]}},"alternative-id":["genes12010066"],"URL":"https:\/\/doi.org\/10.3390\/genes12010066","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,6]]}}}