Genes (Jan 2021)
The <i>LDLR</i>, <i>APOB</i>, and <i>PCSK9</i> Variants of Index Patients with Familial Hypercholesterolemia in Russia
- Alexey Meshkov,
- 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,
- Oxana Drapkina
Affiliations
- Alexey Meshkov
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Alexandra Ershova
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Anna Kiseleva
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Evgenia Zotova
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Evgeniia Sotnikova
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Anna Petukhova
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Anastasia Zharikova
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Pavel Malyshev
- National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
- Tatyana Rozhkova
- National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
- Anastasia Blokhina
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Alena Limonova
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Vasily Ramensky
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Mikhail Divashuk
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Zukhra Khasanova
- National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
- Anna Bukaeva
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Olga Kurilova
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Olga Skirko
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Maria Pokrovskaya
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- Valeriya Mikova
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Ekaterina Snigir
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Alexsandra Akinshina
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Sergey Mitrofanov
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Daria Kashtanova
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Valentin Makarov
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Valeriy Kukharchuk
- National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
- Sergey Boytsov
- National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia
- Sergey Yudin
- Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia
- Oxana Drapkina
- National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia
- DOI
- https://doi.org/10.3390/genes12010066
- Journal volume & issue
-
Vol. 12,
no. 1
p. 66
Abstract
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.
Keywords