Table 1.
Frequency and type of GBA1 mutations found in the European population
| Number | % with mutation | Method | Alterations found | Most common mutation(s) | Origin | Reference | ||
|---|---|---|---|---|---|---|---|---|
| PD cases | Control cases | PD cases | Control cases | |||||
| 2350 | 1111 | 4.5 | 0.63 | Screening of GBA1 exon 9 and 10 | N370S, L444P, D443N, and IVS10+1G>T | – | Italian | Asselta et al. 2014 |
| 259 | – | 3.5 | – | Sequencing of GBA1 exons | L444P, N370S, N462K, R463C, and R257Q |
N370S (33.33%) L444P (33.33%) |
British | Winder‐Rhodes et al. 2013 |
| 360 | 348 | 5.8 | 1.4 | Sequencing of GBA1 exon 8 to 11 | N370S, D409H, H255Q, L444P, A456P, R463C, and RecNciI | N370S (33.33%) | Serbian | Kumar et al. 2013 |
| 311 | 474 | 2.3 | 1.7 | Genotyping for L444P and N370S | L444P and N370S |
N370S (57.14%) L444P (42.86%) |
Norwegian | Toft et al. 2006 |
| 225 | 186 | 9.8 | 0.5 | Sequencing of GBA1 exons | M123T, L144V, G202R, I260T, T369M, N370S, W393R, D409H, L444P, RecNciI, and S488T |
L444P (27.27%) N370S (22.72%) |
Spanish | Setó‐Salvia et al. 2012 |
| 330 | 240 | 2.7 | 0.4 | Genotyping for L444P and N370S | L444P and N370S | L444P (66.67%) | Russian | Emelyanov et al. 2012 |
| 1391 | 391 | 6.7 | 1.0 | Sequencing of GBA1 exons | Lots of different mutations | N370S (47.40%) | French | Lesage et al. 2011 |
| 205 | 206 | 10.24 | 3.39 | Genotyping for N370S, D409H, L444P, H255Q, R120W, Y108C, IVS6‐2A>G, and IVS10‐1G>A | N370S, L444P, D409H; H255Q, D409H, Y108C, IVS10‐1G>A |
N370S (28.57%) L444P (28.57%) |
Greek | Moraitou et al. 2011 |
| 230 | 430 | 6.1 | 0.7 | Sequencing of GBA1 exons | N370S, N396T, D409H, and L444P |
N370S (33.33%) N396T (33.33%) |
Portuguese | Bras et al. 2009 |
| 172 | 132 | 3.4 | 0.3 | Sequencing of GBA1 exons | L445P, D409H, E326K, H255Q, R329H, L268L, S271G, T428K, and V460L |
H255Q (36.36%) L444P (18.18%) |
Greek | Kalinderi et al. 2009 |
| 790 | 257 | 4.18 | 1.17 | Sequencing of GBA1 exons | L444P, D443N, R463C, RecNciI, RecA456P, N370S, D409H, D380A, c.1263‐1317del55, R257Q, G193E, R131C, K7E, and V458L |
L444P (33.33%) N370S (24.24%) |
British | Neumann et al. 2009 |
| 420 | 4138 | 17.9 | 4.2 | Genotyping for N370S, R496H, 84GG, IVS2+1, V394L, D409H, L444P, and RecTL | N370S, R496H, 84GG, IVS2+1, V394L, L444P, and RecTL | N370S (61.33%) | Ashkenazi Jewish (Israeli) | Gan‐Or et al. 2008 |
| 395 | 483 | 2.8 | 0.2 | Genotyping for L444P and N370S | L444P and N370S | L444P (72.73%) | Italian | De Marco et al. 2008 |
| 178 | 85 | 16.9 | 7.1 | Sequencing of GBA1 exons | N370S, R496H, E326K, T369M, P175P, and 84insGG | N370S (78.33%) | Ashkenazi Jewish (American) | Clark et al. 2007 |
| 99 | 1543 | 31.3 | 6.2 | Genotyping for N370S, L444P, 84GG, IVS2+1G>A, V394L, and R496H | N370S and 84GG | N370S (83.87%) | Ashkenazi Jewish (Israeli) | Aharon‐Peretz et al. 2004 |