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