The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia)

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Abstract

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 didn’t confirm the role of the Ala265Gly mutation in the HS1-BP3 gene in development of the ET.

About the authors

Tatyana G. Govorova

M.K. Ammosov North-Eastern Federal University

Author for correspondence.
Email: govorovatatyana@mail.ru
Россия, Yakutsk

Tatyana E. Popova

M.K. Ammosov North-Eastern Federal University; Yakutsk Scientific Center for Complex Medical Problems

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Alexey A. Tappakhov

M.K. Ammosov North-Eastern Federal University; Yakutsk Scientific Center for Complex Medical Problems

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Polina I. Golikova

M.K. Ammosov North-Eastern Federal University

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Anastasya L. Danilova

M.K. Ammosov North-Eastern Federal University

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Ulyana D. Antipina

M.K. Ammosov North-Eastern Federal University

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Vera N. Samorseva

M.K. Ammosov North-Eastern Federal University

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Alena Yu. Petrova

Republican Hospital No. 2 — Center for Emergency Medical Care

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Michil E. Andreev

M.K. Ammosov North-Eastern Federal University

Email: govorovatatyana@mail.ru
Россия, Yakutsk

Nadezhda N. Lyasheeva

Yakutsk Medical Center

Email: govorovatatyana@mail.ru
Россия, Yakuts

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Copyright (c) 2020 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.

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