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.
Highlights
Essential tremor (ET) and Parkinson’s disease (PD), two adult common tremor disorders, are among the most frequent neurological disorders having a crude prevalence of 0.4% and 0.3%, respectively
The putative associa‐ tion between the potential risk variants of PD and the development of ET was investigated in ET patients and ethnically matched normal controls for a common genetic link, due to the considerable epide‐ miological, clinical, imaging, genetic, and neuropathological overlaps between ET and PD (Thenganatt & Jankovic, 2016)
PD patients are reported to have an increased odds of melanoma, and the melanocortin 1 receptor gene (MC1R) gene variants in humans are related to an increased risk of melanoma and PD (Chen, Chen, et al, 2017; Shalaby & Louis, 2016)
Summary
Essential tremor (ET) and Parkinson’s disease (PD), two adult common tremor disorders, are among the most frequent neurological disorders having a crude prevalence of 0.4% and 0.3%, respectively. Typical features of ET are postural and kinetic tremors during voluntary motion (action tremors), worsening with movement, while typical PD tremors primarily occur at rest (rest tremors) (Thenganatt & Jankovic, 2016; Yuan, Song, Deng, Zheng, Yang, et al, 2016). Both types of tremors can present in two disor‐ ders and be accompanied by other overlapping features (Thenganatt & Jankovic, 2016). Evidence supporting ET‐PD link will continue to accumulate and improve our understanding of any underlying mechanisms for both disorders
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