Table 2.
Gaucher-disease-causing GBA variants in sporadic MSA patients and control subjects in each series
| Genotypes | Japanese series | European series | North American series | |||
|---|---|---|---|---|---|---|
| MSA patients (n = 574) | Control subjects (n = 900) | MSA patients (n = 223) | Control subjects (n = 315) | MSA patients (n = 172) | Control subjects (n = 294) | |
| R120W/NM | 1 | 0 | 0 | 0 | 0 | 0 |
| G202R/NM | 1 | 0 | 0 | 0 | 0 | 0 |
| F213I/NM | 2 | 0 | 0 | 0 | 0 | 1 |
| N370S/NM | 0 | 0 | 1 | 2 | 2 | 0 |
| N370S/N370S | 0 | 0 | 1 | 0 | 1 | 0 |
| G377S/NM | 0 | 0 | 0 | 0 | 1 | 0 |
| D409H/NM | 0 | 1 | 0 | 0 | 0 | 0 |
| L444P/NM | 4 | 2 | 1 | 0 | 1 | 0 |
| L444R/NM | 1 | 0 | 0 | 0 | 0 | 0 |
| RecNciI/NM | 0 | 5 | 0 | 0 | 0 | 0 |
| Total | 9/574 (1.65%) | 8/900 (0.89%) | 3/223 (1.35%) | 2/315 (0.63%) | 5/172 (2.91%) | 1/294 (0.34%) |
| Odds ratio (95% confidence interval) | 1.78 (0.68–4.76) | 2.13 (0.35–16.3) | 8.77 (1.34–168.8) | |||
| Fisher's exact test | P = 0.32 | P = 0.65 | P = 0.028 | |||
| Logistic regression analysis | ||
|---|---|---|
| MSA patients (n = 969) | Control subjects (n = 1509) | |
| Carrier frequency of Gaucher-disease-causing GBA variants | 17/969 (1.75%) | 11/1509 (0.73%) |
| Odds ratio adjusted for each series (95% confidence interval) | 2.43 (1.15–5.37), P = 0.022 | |
| Odds ratio unadjusted for each series (95% confidence interval) | 2.43 (1.15–5.37), P = 0.022 | |
GBA, Glucocerebrosidase; MSA, multiple system atrophy; NM, nonmutated allele.