The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia)
| Autor: | 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 |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Анналы клинической и экспериментальной неврологии, Vol 14, Iss 1, Pp 55-61 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2075-5473 2409-2533 |
| DOI: | 10.25692/ACEN.2020.1.6 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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