The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия)
Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.The aim of the study was to investigate the role of Ser9Gly polymorphism in the DRD3 gene, t...
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Анналы клинической и экспериментальной неврологии
2020
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ftdatacite:10.25692/acen.2020.1.6 2023-05-15T18:08:30+02:00 The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) Govorova, T.G. Popova, T.E. Tappakhov, A.A. Golikova, P.I. Danilova, A.L. Antipina, U.D. Samorseva, V.N. Petrova, A.Y. Andreev, M.E. Lyasheeva, N.N. 2020 https://dx.doi.org/10.25692/acen.2020.1.6 http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637 en eng Анналы клинической и экспериментальной неврологии http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637 Creative Commons CC-BY 3.0 https://creativecommons.org/licenses/by/3.0/deed.ru CC-BY essential tremor; Parkinson disease; genetics; LINGO1; DRD3; HS1-BP3 Text article-journal Journal Article ScholarlyArticle 2020 ftdatacite https://doi.org/10.25692/acen.2020.1.6 2021-11-05T12:55:41Z Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.The aim of the study was to investigate the role of Ser9Gly polymorphism in the DRD3 gene, the Ala265Gly mutation in the HS1-BP3 gene and rs9652490 polymorphism in the LINGO1 gene in the development and clinical heterogeneity of ET in the Sakha Republic population (Yakutia).Materials and methods. Thirty-nine patients with a confirmed diagnosis of ET and 48 patients with Parkinson disease were examined. The control group consisted of 87 healthy individuals. Polymorphism carrier status and gene mutations were identified using real-time polymerase chain reaction.Results. The Ser/Gly genotype with Ser9Gly polymorphism in the DRD3 gene and the A/A genotype with rs9652490 polymorphism in the LINGO1 gene increases the risk of developing ET by 2.35 (p 0.02) and 2.42 (p 0.04) times, respectively. Moreover, the A/A genotype of the rs9652490 in the LINGO1 gene increases the risk for ET-plus syndrome by 2.17 times (p 0.02). Our data didnt confirm the role of the Ala265Gly mutation in the HS1-BP3 gene in development of the ET. : №1 (2020) Text Sakha Republic Yakutia Саха Якути* Якутия DataCite Metadata Store (German National Library of Science and Technology) Sakha |
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DataCite Metadata Store (German National Library of Science and Technology) |
op_collection_id |
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English |
topic |
essential tremor; Parkinson disease; genetics; LINGO1; DRD3; HS1-BP3 |
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essential tremor; Parkinson disease; genetics; LINGO1; DRD3; HS1-BP3 Govorova, T.G. Popova, T.E. Tappakhov, A.A. Golikova, P.I. Danilova, A.L. Antipina, U.D. Samorseva, V.N. Petrova, A.Y. Andreev, M.E. Lyasheeva, N.N. The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
topic_facet |
essential tremor; Parkinson disease; genetics; LINGO1; DRD3; HS1-BP3 |
description |
Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.The aim of the study was to investigate the role of Ser9Gly polymorphism in the DRD3 gene, the Ala265Gly mutation in the HS1-BP3 gene and rs9652490 polymorphism in the LINGO1 gene in the development and clinical heterogeneity of ET in the Sakha Republic population (Yakutia).Materials and methods. Thirty-nine patients with a confirmed diagnosis of ET and 48 patients with Parkinson disease were examined. The control group consisted of 87 healthy individuals. Polymorphism carrier status and gene mutations were identified using real-time polymerase chain reaction.Results. The Ser/Gly genotype with Ser9Gly polymorphism in the DRD3 gene and the A/A genotype with rs9652490 polymorphism in the LINGO1 gene increases the risk of developing ET by 2.35 (p 0.02) and 2.42 (p 0.04) times, respectively. Moreover, the A/A genotype of the rs9652490 in the LINGO1 gene increases the risk for ET-plus syndrome by 2.17 times (p 0.02). Our data didnt confirm the role of the Ala265Gly mutation in the HS1-BP3 gene in development of the ET. : №1 (2020) |
format |
Text |
author |
Govorova, T.G. Popova, T.E. Tappakhov, A.A. Golikova, P.I. Danilova, A.L. Antipina, U.D. Samorseva, V.N. Petrova, A.Y. Andreev, M.E. Lyasheeva, N.N. |
author_facet |
Govorova, T.G. Popova, T.E. Tappakhov, A.A. Golikova, P.I. Danilova, A.L. Antipina, U.D. Samorseva, V.N. Petrova, A.Y. Andreev, M.E. Lyasheeva, N.N. |
author_sort |
Govorova, T.G. |
title |
The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
title_short |
The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
title_full |
The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
title_fullStr |
The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
title_full_unstemmed |
The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия) |
title_sort |
impact of drd3, hs1-bp3, and lingo1 gene mutations on the development and clinical heterogeneity of essential tremor in the sakha republic (yakutia) : изучение вклада мутаций в генах drd3, hs1-bp3 и lingo1 в развитие и клиническую гетерогенность эссенциального тремора в республике саха (якутия) |
publisher |
Анналы клинической и экспериментальной неврологии |
publishDate |
2020 |
url |
https://dx.doi.org/10.25692/acen.2020.1.6 http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637 |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Sakha Republic Yakutia Саха Якути* Якутия |
genre_facet |
Sakha Republic Yakutia Саха Якути* Якутия |
op_relation |
http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637 |
op_rights |
Creative Commons CC-BY 3.0 https://creativecommons.org/licenses/by/3.0/deed.ru |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.25692/acen.2020.1.6 |
_version_ |
1766180778795859968 |