Objective: Using a large case-control study to examine the association of rs17590046 (PPARGC1A) and rs28562175 (LOC) with ET in an Asian cohort.

Background: Essential tremor (ET) is one of the most common adult movement disorders, with a positive family history in about half of affected subjects. Association of genetic risk variants with ET has produced inconsistent results. Independent replication is a good litmus test for the reliability of the findings. Here we conduct a large case-control study to examine the association of rs17590046 (PPARGC1A) and rs28562175 (LOC) with ET in an Asian cohort.

Method: We recruited study subjects from tertiary referral centres from the National Neuroscience Institute. The diagnosis of ET was made by movement disorders neurologists according to the Movement Disorder Society consensus diagnostic criteria. We include healthy controls without tremor or neurodegenerative conditions. All subjected gave written informed consent. Genotyping of rs17590046 (PPARGC1A) and rs28562175 (LOC) was carried out by Taqman-based probe on 7500 real-time PCR (Life Technologies). Selected samples underwent Sanger sequencing for confirmation. We compared the allele frequencies in ET and controls. Chi-square test and student t test were used for the categorical and numerical variables. Singhealth Centralized Institutional Review Board approved the study. All subjects gave written informed consent.

Results: A total of 1222 subjects were included. These comprise of 594 ET and 628 age and gender matched controls without neurodegenerative diseases. The mean age of ET was 52.3 + 20.0, and age at onset, 41.5 + 21.4 years, and mean age of controls was 52.6 + 20.0 years. Carriers of rs17590046 were associated with a reduced risk of ET compared to non-carriers (Odds ratio:0.812; 95%CI 0.614 – 1.072, p=0.15), and carriers of  rs28562175 were associated with an increased risk of ET ( Odds ratio:1.31; 95%CI 1.09 – 1.59, p=0.05).

Conclusion: Our case control study showed that there was a trend suggesting that carriers of rs17590046 had a reduced risk and carriers of rs28562175 had an increased risk of ET. Further validation of the findings in other ethnic populations will be useful.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/association-study-of-genetic-variants-with-essential-tremor/