Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies
The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipopro...
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crfrontiers:10.3389/fgene.2020.550591 2024-02-11T10:05:26+01:00 Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies Vasilyev, Vadim Zakharova, Faina Bogoslovskay, Tatiana Mandelshtam, Mikhail 2020 http://dx.doi.org/10.3389/fgene.2020.550591 https://www.frontiersin.org/articles/10.3389/fgene.2020.550591/full unknown Frontiers Media SA https://creativecommons.org/licenses/by/4.0/ Frontiers in Genetics volume 11 ISSN 1664-8021 Genetics (clinical) Genetics Molecular Medicine journal-article 2020 crfrontiers https://doi.org/10.3389/fgene.2020.550591 2024-01-26T10:07:07Z The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipoprotein receptor gene ( LDLR ). Gradually the research was spread to Petrozavodsk in Karelia and in the XXI century two more centers contributed in investigations of genetics of FH, i.e., in Moscow and Novosibirsk. The best studied is the spectrum of mutations in LDLR , though genetic abnormalities in APOB and PCSK9 genes were also considered. Despite that some 40% mutations in LDLR found in Saint-Petersburg and Moscow are referred to as specific for Russian population, and this proportion is even higher in Karelia (ca. 70%), rapid introduction of NGS and intensifying genetic research all over the world result in continuous decrease of these numbers as “Slavic” mutations become documented in other countries. The samplings of genetically characterized patients in Russia were relatively small, which makes difficult to specify major mutations reflecting the national specificity of FH. Moreover, the majority of studies accomplished so far did not explore possible associations of certain mutations with ethnic origin of patients. By now the only exception is the study of Karelian population showing the absence of typical Finnish mutations in the region that borders on Finland. It can be concluded that the important primary research partly characterizing the mutation spectrum in FH patients both in the European and Siberian parts of Russia has been done. However, it seems likely that the most interesting and comprehensive genetic studies of FH in Russia, concerning various mutations in different genes and the variety of ethnic groups in this multi-national country, are still to be undertaken. Article in Journal/Newspaper karelia* karelia* karelian North-West Russia Frontiers (Publisher) Frontiers in Genetics 11 |
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Genetics (clinical) Genetics Molecular Medicine |
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Genetics (clinical) Genetics Molecular Medicine Vasilyev, Vadim Zakharova, Faina Bogoslovskay, Tatiana Mandelshtam, Mikhail Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
topic_facet |
Genetics (clinical) Genetics Molecular Medicine |
description |
The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipoprotein receptor gene ( LDLR ). Gradually the research was spread to Petrozavodsk in Karelia and in the XXI century two more centers contributed in investigations of genetics of FH, i.e., in Moscow and Novosibirsk. The best studied is the spectrum of mutations in LDLR , though genetic abnormalities in APOB and PCSK9 genes were also considered. Despite that some 40% mutations in LDLR found in Saint-Petersburg and Moscow are referred to as specific for Russian population, and this proportion is even higher in Karelia (ca. 70%), rapid introduction of NGS and intensifying genetic research all over the world result in continuous decrease of these numbers as “Slavic” mutations become documented in other countries. The samplings of genetically characterized patients in Russia were relatively small, which makes difficult to specify major mutations reflecting the national specificity of FH. Moreover, the majority of studies accomplished so far did not explore possible associations of certain mutations with ethnic origin of patients. By now the only exception is the study of Karelian population showing the absence of typical Finnish mutations in the region that borders on Finland. It can be concluded that the important primary research partly characterizing the mutation spectrum in FH patients both in the European and Siberian parts of Russia has been done. However, it seems likely that the most interesting and comprehensive genetic studies of FH in Russia, concerning various mutations in different genes and the variety of ethnic groups in this multi-national country, are still to be undertaken. |
format |
Article in Journal/Newspaper |
author |
Vasilyev, Vadim Zakharova, Faina Bogoslovskay, Tatiana Mandelshtam, Mikhail |
author_facet |
Vasilyev, Vadim Zakharova, Faina Bogoslovskay, Tatiana Mandelshtam, Mikhail |
author_sort |
Vasilyev, Vadim |
title |
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
title_short |
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
title_full |
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
title_fullStr |
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
title_full_unstemmed |
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies |
title_sort |
familial hypercholesterolemia in russia: three decades of genetic studies |
publisher |
Frontiers Media SA |
publishDate |
2020 |
url |
http://dx.doi.org/10.3389/fgene.2020.550591 https://www.frontiersin.org/articles/10.3389/fgene.2020.550591/full |
genre |
karelia* karelia* karelian North-West Russia |
genre_facet |
karelia* karelia* karelian North-West Russia |
op_source |
Frontiers in Genetics volume 11 ISSN 1664-8021 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ |
op_doi |
https://doi.org/10.3389/fgene.2020.550591 |
container_title |
Frontiers in Genetics |
container_volume |
11 |
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1790602460180512768 |