The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia)
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,...
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ftdoajarticles:oai:doaj.org/article:682a9ca14df543e69b4511765beee543 2023-05-15T18:08:29+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) Tatyana G. Govorova Tatyana E. Popova Alexey A. Tappakhov Polina I. Golikova Anastasya L. Danilova Ulyana D. Antipina Vera N. Samorseva Alena Yu. Petrova Michil E. Andreev Nadezhda N. Lyasheeva 2020-03-01T00:00:00Z https://doi.org/10.25692/ACEN.2020.1.6 https://doaj.org/article/682a9ca14df543e69b4511765beee543 EN RU eng rus Research Center of Neurology https://annaly-nevrologii.com/journal/pathID/article/viewFile/637/507 https://doaj.org/toc/2075-5473 https://doaj.org/toc/2409-2533 2075-5473 2409-2533 doi:10.25692/ACEN.2020.1.6 https://doaj.org/article/682a9ca14df543e69b4511765beee543 Анналы клинической и экспериментальной неврологии, Vol 14, Iss 1, Pp 55-61 (2020) essential tremor parkinson disease genetics lingo1 drd3 hs1-bp3 Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 article 2020 ftdoajarticles https://doi.org/10.25692/ACEN.2020.1.6 2022-12-30T21:37:54Z 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. Article in Journal/Newspaper Sakha Republic Yakutia Directory of Open Access Journals: DOAJ Articles Sakha |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
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language |
English Russian |
topic |
essential tremor parkinson disease genetics lingo1 drd3 hs1-bp3 Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 |
spellingShingle |
essential tremor parkinson disease genetics lingo1 drd3 hs1-bp3 Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Tatyana G. Govorova Tatyana E. Popova Alexey A. Tappakhov Polina I. Golikova Anastasya L. Danilova Ulyana D. Antipina Vera N. Samorseva Alena Yu. Petrova Michil E. Andreev Nadezhda N. Lyasheeva The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) |
topic_facet |
essential tremor parkinson disease genetics lingo1 drd3 hs1-bp3 Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 |
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. |
format |
Article in Journal/Newspaper |
author |
Tatyana G. Govorova Tatyana E. Popova Alexey A. Tappakhov Polina I. Golikova Anastasya L. Danilova Ulyana D. Antipina Vera N. Samorseva Alena Yu. Petrova Michil E. Andreev Nadezhda N. Lyasheeva |
author_facet |
Tatyana G. Govorova Tatyana E. Popova Alexey A. Tappakhov Polina I. Golikova Anastasya L. Danilova Ulyana D. Antipina Vera N. Samorseva Alena Yu. Petrova Michil E. Andreev Nadezhda N. Lyasheeva |
author_sort |
Tatyana G. Govorova |
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) |
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) |
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) |
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) |
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) |
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) |
publisher |
Research Center of Neurology |
publishDate |
2020 |
url |
https://doi.org/10.25692/ACEN.2020.1.6 https://doaj.org/article/682a9ca14df543e69b4511765beee543 |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Sakha Republic Yakutia |
genre_facet |
Sakha Republic Yakutia |
op_source |
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 1, Pp 55-61 (2020) |
op_relation |
https://annaly-nevrologii.com/journal/pathID/article/viewFile/637/507 https://doaj.org/toc/2075-5473 https://doaj.org/toc/2409-2533 2075-5473 2409-2533 doi:10.25692/ACEN.2020.1.6 https://doaj.org/article/682a9ca14df543e69b4511765beee543 |
op_doi |
https://doi.org/10.25692/ACEN.2020.1.6 |
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1766180777199927296 |