Table 2.

Genetic data in Lewy body spectrum disorders stratified by burden of Alzheimer’s disease pathology

	High-Level AD N=63	Intermediate-Level AD N=45	Low-Level AD N=56	No-AD N=49	p-Value
APOE ε 4 Frequency	0= 24/61 (39%) 1= 30/61 (49%) 2= 7/61 (12%)	0= 20/42 (48%) 1= 19/42 (45%) 2= 3/42 (7%)	0= 30/56 (54%) 1= 23/56 (41%) 2= 3/56 (54%)	0= 30/49 (61%) 1= 18/49 (37%) 2= 1/49 (2%)	Add= 0·3 Dom= 0·1
MAPT H1 Haplotype Frequency	H2/H2=1/59 (2%) H1/H2=19/59 (32%) H1/H1= 39/59 (66%)	H2/H2=2/42 (5%) H1/H2=14/42 (33%) H1/H1= 26/42 (62%)	H2/H2=1/53 (2%) H1/H2=13/53 (25%) H1/H1= 39/53 (74%)	H2/H2=1/48 (2%) H1/H2=15/48 (31%) H1/H1= 32/48 (67%)	Add=0·9 Rec=0·7
SNCA rs356219 Genotype Frequency	GG=16/59 (27%) GA=32/59 (54%) AA=11/59 (19%)	GG=9/42 (21%) GA=30/42 (71%) AA=3/42 (7%)	GG=15/53 (28%) GA=29/53 (55%) AA=9/53 (17%)	GG=13/48 (27%) GA=28/48 (58%) AA=7/48 (15%)	Add=0·6 Dom=0·9
GBA E326K Genotype Frequency	GG=47/47 (100%) GA=0 AA=0	GG=26/26 (100%) GA=0 AA=0	GG=31/35 (89%) GA=4/35 (11%) AA=0	GG=28/32 (88%) GA=4/32 (13%) AA=0	Add=NA Dom=0·03 #
GBA Mutation Frequency	Positive= 1/45 (2%) N370S=1	Positive=2/34 (6%) N370S=1 Rec1=1	Positive=6/39 (15%) A456P=1 L444P=1 N370S=3 S196P=1	Positive=8/39 (21%) N370S=3 N370S, R463C=1 R163X=1 R359X=1 Rec1=1 V394L=1	0·03#

Normally-distributed variables are presented as mean (standard deviation), non-parametric ordinal scores are presented as median (interquartile range) and categorical variables presented as frequency (%). LBSD=Lewy body spectrum disorders, Add= additive genetic model (i.e. 0 vs 1 vs 2 copies), Dom= dominant genetic model (0 vs 1/2 copies), Rec= recessive genetic model (0/1 vs 2 copies), NA= not applicable (no homozygous risk allele patients). P-values correspond to 4 group comparison.

^#p<0·05 for linear trend association in categorical variables