|
Mitochondrial DNA Haplogroup
|
Haplogroup frequency, No. (%)
|
PSP versus controls
|
CBD versus controls
|
|---|
|
Controls (N = 910)
|
PSP patients (N = 1042)
|
CBD patients (N = 171)
|
OR (95% CI)
|
P value
|
OR (95% CI)
|
P value
|
|---|
|
Na
|
2 (0.2%)
|
0 (0.0%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
N1
|
5 (0.5%)
|
6 (0.6%)
|
0 (0.0%)
|
1.08 (0.33, 3.58)
|
0.90
|
–
|
–
|
|
I
|
31 (3.4%)
|
23 (2.2%)
|
2 (1.2%)
|
0.56 (0.32, 0.98)
|
0.041
|
0.24 (0.06, 1.05)
|
0.058
|
|
W
|
15 (1.6%)
|
22 (2.1%)
|
3 (1.8%)
|
1.37 (0.70, 2.67)
|
0.36
|
1.27 (0.35, 4.54)
|
0.72
|
|
X
|
8 (0.9%)
|
18 (1.7%)
|
5 (2.9%)
|
1.90 (0.81, 4.43)
|
0.14
|
3.48 (1.07, 11.33)
|
0.039
|
|
R and R0a
|
6 (0.7%)
|
10 (1.0%)
|
2 (1.2%)
|
1.33 (0.48, 3.72)
|
0.58
|
–
|
–
|
|
HV and HV0a
|
22 (2.4%)
|
16 (1.5%)
|
2 (1.2%)
|
0.67 (0.35, 1.30)
|
0.24
|
0.54 (0.12, 2.35)
|
0.41
|
|
H, H1, H2, H3, and H4
|
423 (46.5%)
|
469 (45.0%)
|
84 (49.1%)
|
0.94 (0.78, 1.13)
|
0.50
|
1.11 (0.79, 1.55)
|
0.54
|
|
H
|
199 (21.9%)
|
200 (19.2%)
|
30 (17.5%)
|
0.84 (0.68, 1.05)
|
0.14
|
0.76 (0.49, 1.17)
|
0.21
|
|
H1
|
145 (15.9%)
|
171 (16.4%)
|
31 (18.1%)
|
1.03 (0.80, 1.31)
|
0.84
|
1.16 (0.75, 1.79)
|
0.52
|
|
H2
|
36 (4.0%)
|
34 (3.3%)
|
5 (2.9%)
|
0.78 (0.48, 1.27)
|
0.32
|
0.65 (0.25, 1.73)
|
0.39
|
|
H3
|
32 (3.5%)
|
49 (4.7%)
|
9 (5.3%)
|
1.47 (0.93, 2.33)
|
0.10
|
1.76 (0.81, 3.83)
|
0.16
|
|
H4
|
11 (1.2%)
|
15 (1.4%)
|
9 (5.3%)
|
1.18 (0.54, 2.60)
|
0.68
|
4.51 (1.8, 11.31)
|
0.001
|
|
V
|
18 (2.0%)
|
29 (2.8%)
|
3 (1.8%)
|
1.37 (0.75, 2.50)
|
0.31
|
0.79 (0.23, 2.79)
|
0.72
|
|
JTa
|
2 (0.2%)
|
3 (0.3%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
J1, J1d, J2a, and J2b
|
93 (10.2%)
|
125 (12.0%)
|
18 (10.5%)
|
1.23 (0.92, 1.64)
|
0.15
|
1.11 (0.65, 1.92)
|
0.70
|
|
J1
|
72 (7.9%)
|
98 (9.4%)
|
17 (9.9%)
|
1.23 (0.89, 1.69)
|
0.21
|
1.35 (0.76, 2.39)
|
0.30
|
|
J1da
|
1 (0.1%)
|
0 (0.0%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
J2a
|
13 (1.4%)
|
24 (2.3%)
|
1 (0.6%)
|
1.77 (0.89, 3.53)
|
0.10
|
0.49 (0.06, 3.84)
|
0.50
|
|
J2b
|
7 (0.8%)
|
3 (0.3%)
|
0 (0.0%)
|
0.39 (0.10, 1.52)
|
0.17
|
–
|
–
|
|
T, T1, and T2
|
77 (8.5%)
|
102 (9.8%)
|
22 (12.9%)
|
1.20 (0.88, 1.64)
|
0.26
|
1.72 (1.02, 2.89)
|
0.042
|
|
Ta
|
0 (0.0%)
|
2 (0.2%)
|
1 (0.6%)
|
–
|
–
|
–
|
–
|
|
T1
|
17 (1.9%)
|
22 (2.1%)
|
4 (2.3%)
|
1.10 (0.58, 2.10)
|
0.77
|
1.16 (0.37, 3.6)
|
0.80
|
|
T2
|
60 (6.6%)
|
78 (7.5%)
|
17 (9.9%)
|
1.19 (0.84, 1.70)
|
0.33
|
1.74 (0.97, 3.11)
|
0.063
|
|
U, U1, U3, U5, and U6
|
130 (14.3%)
|
138 (13.2%)
|
19 (11.1%)
|
0.88 (0.68, 1.15)
|
0.36
|
0.71 (0.42, 1.19)
|
0.19
|
|
U
|
44 (4.8%)
|
56 (5.4%)
|
7 (4.1%)
|
1.07 (0.71, 1.61)
|
0.74
|
0.84 (0.36, 1.92)
|
0.68
|
|
U1a
|
1 (0.1%)
|
1 (0.1%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
U3a
|
8 (0.9%)
|
0 (0.0%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
U5
|
74 (8.1%)
|
80 (7.7%)
|
12 (7.0%)
|
0.92 (0.66, 1.28)
|
0.60
|
0.79 (0.41, 1.51)
|
0.48
|
|
U6a
|
3 (0.3%)
|
1 (0.1%)
|
0 (0.0%)
|
–
|
–
|
–
|
–
|
|
K
|
78 (8.6%)
|
80 (7.7%)
|
11 (6.4%)
|
0.92 (0.66, 1.28)
|
0.62
|
0.72 (0.37, 1.41)
|
0.35
|
- After applying a Bonferroni correction for multiple testing, association P values ≤ 0.0021 (PSP vs. controls analysis) and ≤ 0.0024 (CBD vs. controls) are considered statistically significant
- aStatistical tests were not performed for these haplogroups owing to their rare frequency (< 10 subjects in the given haplogroup for the given comparison [PSP vs. controls or CBD vs. controls]). OR = odds ratio; CI = confidence interval at 95%
