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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

1
National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
2
Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
3
Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia
4
National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
*
Author to whom correspondence should be addressed.
Genes 2021, 12(1), 66; https://doi.org/10.3390/genes12010066
Received: 16 December 2020 / Revised: 25 December 2020 / Accepted: 30 December 2020 / Published: 6 January 2021
(This article belongs to the Special Issue Cardiovascular Genetics)
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 1995–2020 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. View Full-Text
Keywords: familial hypercholesterolemia; Russian; whole genome sequencing; LDLR; APOB; PCSK9 familial hypercholesterolemia; Russian; whole genome sequencing; LDLR; APOB; PCSK9
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MDPI and ACS Style

Meshkov, A.; Ershova, A.; Kiseleva, A.; Zotova, E.; Sotnikova, E.; Petukhova, A.; Zharikova, A.; Malyshev, P.; Rozhkova, T.; Blokhina, A.; Limonova, A.; Ramensky, V.; Divashuk, M.; Khasanova, Z.; Bukaeva, A.; Kurilova, O.; Skirko, O.; Pokrovskaya, M.; Mikova, V.; Snigir, E.; Akinshina, A.; Mitrofanov, S.; Kashtanova, D.; Makarov, V.; Kukharchuk, V.; Boytsov, S.; Yudin, S.; Drapkina, O. The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia. Genes 2021, 12, 66. https://doi.org/10.3390/genes12010066

AMA Style

Meshkov A, Ershova A, Kiseleva A, Zotova E, Sotnikova E, Petukhova A, Zharikova A, Malyshev P, Rozhkova T, Blokhina A, Limonova A, Ramensky V, Divashuk M, Khasanova Z, Bukaeva A, Kurilova O, Skirko O, Pokrovskaya M, Mikova V, Snigir E, Akinshina A, Mitrofanov S, Kashtanova D, Makarov V, Kukharchuk V, Boytsov S, Yudin S, Drapkina O. The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia. Genes. 2021; 12(1):66. https://doi.org/10.3390/genes12010066

Chicago/Turabian Style

Meshkov, Alexey, Alexandra Ershova, Anna Kiseleva, Evgenia Zotova, Evgeniia Sotnikova, Anna Petukhova, Anastasia Zharikova, Pavel Malyshev, Tatyana Rozhkova, Anastasia Blokhina, Alena Limonova, Vasily Ramensky, Mikhail Divashuk, Zukhra Khasanova, Anna Bukaeva, Olga Kurilova, Olga Skirko, Maria Pokrovskaya, Valeriya Mikova, Ekaterina Snigir, Alexsandra Akinshina, Sergey Mitrofanov, Daria Kashtanova, Valentin Makarov, Valeriy Kukharchuk, Sergey Boytsov, Sergey Yudin, and Oxana Drapkina. 2021. "The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia" Genes 12, no. 1: 66. https://doi.org/10.3390/genes12010066

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