Table 1.

Frequency of GBA mutation carriers in individual Parkinson cohorts

Study	Population	Screened mutations	Sample size, n		Carrier frequency, %		P value	Most common variant(s)
			Cases	Controls	Cases	Controls
Lwin et al. 2004 [19]	Mixed	Whole GBA scanning	57	–	21	–	–	N370S
Aharon-Peretz et al. 2004 [21]	Ashkenazi Jews	N370S, L444P, c.84dupG, IVS2 +1A>G, V394L, R496H	99	1543	31.3	6.2	<0.0001	N370S
Clark et al. 2005 [79]	Ashkenazi Jews	N370S	160	92	10.7	4.3	0.2	N370S
Sato et al. 2005 [22]	Caucasians (Canadian origin)	N370S, L444P, IVS2+1A>G, K198T, R329C, c.84dupG, RecNcil	88	122	5.68	0.8	0.48	RecNcil
Toft et al. 2006 [23]	Norwegian	N370S, L444P	311	474	2.3	1.7	0.58	N370S
Eblan et al. 2006 [24]	Mixed (no Jewish)	Whole GBA scanning	33	31	12	3.2	–	RecNcil, L444P
Tan et al. 2007 [25]	Chinese	L444P, N370S	331	347	2.4	0	0.06	L444P
Ziegler et al. 2007 [26]	Chinese	Whole GBA scanning	92	92	4.3	1.1	–	L444P
Wu et al. 2007 [28]	Taiwanese	L444P, RecNcil, R120W	518	339	3.1	1.2	0.07	L444P, RecNcil
Clark et al. 2007 [27]	Mixed (64% Jewish)	Whole GBA scanning	278 (178)	179	13.7	4.5	–	N370S, c.84dupG
De Marco et al. 2008 [80]	Italian	N370S, L444P	395	483	2.8	0.2	0.0018	L444P
Spitz et al. 2008 [30]	Brazilian	N370S, L444P, G377S	65	267	3	0	0.037	L444P
Mata et al. 2008 [41]	Mixed	N370S, L444P	721	554	2.9	0.4	<0.001	N370S, L444P
Gan-Or et al. 2008 [29•]	Ashkenazi Jews	N370S, R496H, L444P, c.84dupG, IVS2+1, V394L, D409H, RecTL	420	333	17.9	4.2	<0.0001	N370S
Bras et al. 2009 [35]	Portuguese	Whole GBA scanning	230	430	6.1	0.7	–	N370S, N396T
Kalinderi et al. 2009 [33]	Greek	Whole GBA scanning	172	132	4.7	0.8	0.048	H255Q, L444P
Nichols et al. 2009 [32]	Mixed (<10% Jewish)	N370S, T369M, L444P, IVS6, IVS10 E326K, K303K, R262H, RecNcil	1325	359	12.6	5.3	–	E326K, T369M, N370S, L444P
Neumann et al. 2009 [31•]	British	Whole GBA scanning	790	257	4.18	1.17	0.01	L444P, N370S
Mitsui et al. 2009 [34•]	Japanese	Whole GBA scanning	534	544	9.4	0.037	6.9 × 10–14	R120W, RecNcil