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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Essential tremor and the common LRRK2 G2385R variant
Eng-King Tan1, Jasinda Lee, Hui-Qin Lim
1Department of Neurology, Singapore General Hospital, Singapore. gnrtek@sgh.com.sg
Parkinsonism & Related Disorders
|March 5, 2008
Summary
The LRRK2 Gly2385Arg variant, linked to Parkinson's disease (PD), was studied in essential tremor (ET) patients. This genetic variant is not a significant risk factor for developing essential tremor.
Area of Science:
- Neurogenetics
- Movement Disorders
- Neurology
Background:
- Parkinson's disease (PD) and essential tremor (ET) may share underlying pathophysiology.
- LRRK2 mutations are implicated in PD, with some patients initially presenting with ET.
- A specific LRRK2 Gly2385Arg variant increases PD risk in Asian populations.
Purpose of the Study:
- To investigate the association between the LRRK2 Gly2385Arg variant and essential tremor.
- To determine if this variant is a risk factor for ET in the studied cohort.
Main Methods:
- A cohort study involving 172 ET patients and 247 controls.
- Genotyping for the LRRK2 Gly2385Arg variant.
- Statistical analysis including odds ratio calculation and p-value determination.
Main Results:
- The Gly2385Arg variant was found in 2.9% of ET patients and 4.0% of controls.
- The odds ratio for ET associated with the variant was 0.72 (95% CI 0.24, 2.1), with p=0.6.
- All variant carriers were heterozygotes.
Conclusions:
- The LRRK2 Gly2385Arg variant is not a significant risk factor for essential tremor in this population.
- The findings suggest distinct genetic underpinnings for PD and ET, despite potential overlapping clinical features.
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