Abstract Details

Title PLA2G4C rs2303744 Polymorphism on the Risk of Multiple System Atrophy in Taiwan

Topic Movement Disorders

Presentation(s) P8 - Poster Session 8 (11:45 AM-12:45 PM)

Poster/Presentation
Number 16-013

Objective To investigate the association of PLA2G4C rs2303744 with MSA in a Taiwanese cohort and compare findings with prior East Asian and European studies.

Background Multiple system atrophy (MSA) is a rare, rapidly progressive neurodegenerative disorder with limited treatment options. Previous genome-wide association studies identified a susceptibility locus in PLA2G4C (rs2303744) in Japanese and Korean cohorts, with replication in European populations. However, its relevance in Taiwanese patients remains unknown.

Design/Methods This is a case/control study. We recruited 191 patients with clinically established or probable MSA and 381 age- and sex-matched controls. Genotyping of rs2303744 was performed using TaqMan SNP assays. Allele frequencies, odds ratios (ORs), and 95% confidence intervals (CIs) were calculated, and age at onset was compared across genotypes.

Results

The mean age at onset of MSA was 61 ± 9 years, with a slight male predominance (58%). The frequency of the rs2303744 T allele was significantly higher in MSA cases than in controls (44% vs 34%). The T allele was associated with increased risk of MSA (OR, 1.52; 95% CI, 1.18–1.96; p = 0.00099). No significant differences in age at onset were observed among genotypes.

Conclusions Our study provides the first evidence that the PLA2G4C rs2303744 variant is associated with MSA in Taiwanese patients, consistent with findings in other East Asian populations.

Authors/Disclosures
Yung-Tsai Chu, MD PRESENTER	Dr. Chu has nothing to disclose.
Ruey-Meei Wu (National Taiwan University Hospital)	Ruey-Meei Wu has received research support from National science council of Taiwan.

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