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Table 2 Associations of individual mitochondrial DNA haplogroups with risk of PSP and CBD (compared to controls) were evaluated using multivariable logistic regression models adjusted for age and sex

From: Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures

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

  1. 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
  2. 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%