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Table 1 Frequency of GBA mutations in various populations of PD patients

From: Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review

GBA variant Population No. of participants Carrier frequency
(%)
P
value
Most common variants Reference
   Cases Control Cases Control    
N370S, L444P, T369M, IVS6, IVS10,
K303K, R262H, E326K, RecNci1
Mixed 1325 359 12.6% 5.3% E326K, L444P, N370S, T369M [55]
N370S, c.84dupG, R496H, L444P, V394L,
IVS2 + 1, RecTL, D409H
Ashkenazi 420 333 17.9% 4.2% ≤0.0001 N370S [57]
N370S, IVS2 + A > G, K198T, L444P,
R329C, RecNci1, c.84dupG
Canadian 88 122 5.7% 0.8% 0.48% RecNci1 [67]
L444P, N370S Chinese population in Singapore 331 347 2.4% 0.0% 0.06 L444P [68]
L444P, N370S Italian 395 483 2.8% 0.2% 0.0018 L444P [69]
L444P, N370S, c.84dupG,
V394L, IVS2 + A > G, R496H
Ashkenazi 99 1543 31.3% 6.2% ≤0.0001 N370S [70]
L444P, N370S Russian 330 240 2.7% 0.4% 0.038 N370S [71]
GBA exons Japanese 534 544 9.4% 0.1% ≤0.0001 R120W, RecNci1 [72]
GBA exons Korean 277 291 3.2% 0.0% 0.01 N188S, R257Q, P201H, L444P, S271G [73]
GBA exons Portugese 230 430 6.1% 0.7% N370S, N396T [74]
L444P, R353W, F213I, N370S PD patients in China's mainland 402 413 2.7% 0.0% 0.0007 L444P [75]
N370S, G377S, L444P Brazilian 65 267 3.0% 0.0% 0.037 L444P [76]
L444P, R120W, RecNci1 PD patients in Taiwan region 518 339 3.1% 1.2% 0.07 L444P, RecNci1 [77]
GBA exons Greek 172 132 4.7% 0.8% 0.048 H255Q, L444P [78]
N370S, 84GG, L444P, IVS2 + 1G > A,
V394L, D409H, del55bp, R496H
Ashkenazi 250 12.8% N370S [79]
LRRK2 (G2019S), GBA exons North African (Morocco, Algeria, Libya, Tunisia) 194 177 4.6% 0.5% 0.01 N370S, L444P, RecNci1 [57]