ArticleBrain and behavior2018
Systematic analysis of genetic variants in patients with essential tremor.
Article in Brain and behavior, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.International journal of molecular sciences · 2024Article
- Rare variant analysis of essential tremor-associated genes in early-onset Parkinson's disease.Annals of clinical and translational neurology · 2021Article
- Extended Study ofFrontiers in neurology · 2020Article
- Systematic analysis of genetic variants in patients with essential tremor.Brain and behavior · 2018Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEssential tremor (ET), a prevalent neurological disorder, is featured by postural and kinetic tremors in upper limbs. Studies of twins and families indicate an important role for genetic factors in ET development. There are substantial overlaps between ET and Parkinson's disease (PD). The aim of this study was to examine the possible roles of genetic variants in ET development.
methodsA total of 200 Han Chinese ET patients and 432 ethnically matched normal controls were enrolled, and genetic analysis of 23 variants in 15 genes was performed.
resultsGenotypic and allelic frequencies of the melanocortin 1 receptor gene (MC1R) variant rs34090186 showed statistically significant differences in ET patients and controls (p = 0.027 and 0.028, odds ratio = 2.789 and 2.744, 95% confidence interval: 1.084-7.179 and 1.075-7.005). No statistically significant difference was revealed in either genotypic or allelic distributions of other variants or haplotypes (all p > 0.05).
conclusionsThe discrepancies found in this study indicate the variant rs34090186 in the MC1R gene, some variants of which were reported to be related to increased risk of PD and melanoma, may play a risk role in ET, confirming a potential association between ET and PD. Evidence supporting ET-PD link will continue to accumulate and improve our understanding of any underlying mechanisms for both disorders.
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