Table 1.
Analysis of the p.N352S ARSA variant in α-synucleinopathies
| Cohort | Cases, n | Controls, n | Frequency (affected) | Frequency (unaffected) | P-valuea | OR (CI) |
|---|---|---|---|---|---|---|
| LBD GWASb | 556 | 1418 | 0.1061 | 0.1326 | 0.024 | 0.77 (0.623–0.967) |
| MSA GWASb | 896 | 3881 | 0.1384 | 0.1336 | 0.592 | 1.042 (0.897–1.209) |
| RBD GWASb | 1046 | 11 961 | 0.1456 | 0.1292 | 0.030 | 1.16 (1.015–1.335) |
| PD GWASb | 56 306c | 1 417 791 | 0.1334d | 0.1354d | 0.022 | 0.969 (0.943–0.996) |
CI = confidence interval; GWAS = genome-wide association study; LBD = Lewy body dementia; MSA = multiple system atrophy; OR = odds ratio; PD = Parkinson’s disease; RBD = REM sleep behaviour disorder.
a
Uncorrected P-value, all results were not significant after correction for multiple comparisons.
b
p.N352S was found in imputed genotyping files with an R2 value of 0.975 for dementia with Lewy bodies GWAS, 0.953 for multiple system atrophy GWAS, 0.997 for RBD GWAS, and >0.96 for Parkinson’s disease GWAS.
c
Including proxy cases.
d
Frequency estimates were based on a subset of the data including 21 478 cases and 24 388 controls.