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Table 2 Associations between mitochondrial DNA haplogroups and risk of DLB

From: Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures

Mitochondrial DNA Haplogroup

Haplogroup frequency, No. (%)

Clinical DLB vs. controls

LBD with a high likelihood of DLB vs. controls

Overall DLB vs. controls

Controls (N = 910)

Clinical DLB (N = 360)

LBD high likelihood of DLB (N = 446)

Overall DLB (N = 758)

OR (95% CI)

P-value

OR (95% CI)

P-value

OR (95% CI)

P-value

Na

2 (0.2%)

0 (0.0%)

0 (0.0%)

0 (0.0%)

–

–

–

–

–

–

N1a

5 (0.5%)

4 (1.1%)

2 (0.4%)

6 (0.8%)

–

–

–

–

1.31 (0.38, 4.49)

0.66

I

31 (3.4%)

12 (3.3%)

13 (2.9%)

22 (2.9%)

0.77 (0.38, 1.56)

0.47

0.83 (0.41, 1.60)

0.60

0.77 (0.44, 1.38)

0.38

W

15 (1.6%)

9 (2.5%)

8 (1.8%)

15 (2.0%)

1.71 (0.69, 4.23)

0.24

1.11 (0.44, 2.64)

0.81

1.30 (0.61, 2.76)

0.50

X

8 (0.9%)

2 (0.6%)

7 (1.6%)

9 (1.2%)

0.60 (0.12, 3.10)

0.55

1.68 (0.57, 4.82)

0.33

1.36 (0.50, 3.69)

0.55

R or R0a

6 (0.7%)

1 (0.3%)

1 (0.2%)

2 (0.3%)

–

–

–

–

–

–

HV or HV0a

22 (2.4%)

6 (1.7%)

13 (2.9%)

17 (2.2%)

0.86 (0.33, 2.26)

0.76

1.36 (0.65, 2.74)

0.40

1.02 (0.53, 2.00)

0.94

H, H1, H2, H3, and H4

423 (46.5%)

149 (41.4%)

183 (41.0%)

316 (41.7%)

0.85 (0.65, 1.10)

0.22

0.83 (0.66, 1.05)

0.13

0.85 (0.70, 1.04)

0.12

H

199 (21.9%)

51 (14.2%)

85 (19.1%)

133 (17.5%)

0.61 (0.43, 0.87)

0.006

0.87 (0.65, 1.16)

0.34

0.78 (0.61, 1.01)

0.057

H1

145 (15.9%)

67 (18.6%)

56 (12.6%)

116 (15.3%)

1.22 (0.87, 1.71)

0.26

0.78 (0.55, 1.09)

0.16

0.97 (0.74, 1.28)

0.85

H2

36 (4.0%)

6 (1.7%)

12 (2.7%)

17 (2.2%)

0.44 (0.18, 1.09)

0.076

0.67 (0.33, 1.28)

0.24

0.56 (0.30, 1.02)

0.057

H3

32 (3.5%)

16 (4.4%)

23 (5.2%)

36 (4.7%)

1.42 (0.73, 2.75)

0.30

1.59 (0.89, 2.78)

0.11

1.48 (0.89, 2.47)

0.13

H4

11 (1.2%)

9 (2.5%)

7 (1.6%)

14 (1.8%)

1.76 (0.70, 4.46)

0.23

1.14 (0.41, 2.98)

0.80

1.33 (0.59, 3.01)

0.50

V

18 (2.0%)

14 (3.9%)

12 (2.7%)

26 (3.4%)

1.99 (0.94, 4.22)

0.073

1.37 (0.63, 2.91)

0.41

1.82 (0.97, 3.42)

0.064

JTa

2 (0.2%)

0 (0.0%)

0 (0.0%)

0 (0.0%)

–

–

–

–

–

–

J, J1, J1d, J2, J2a,

and J2b

93 (10.2%)

38 (10.6%)

52 (11.7%)

87 (11.5%)

1.02 (0.67, 1.55)

0.94

1.13 (0.78, 1.63)

0.51

1.11 (0.81, 1.54)

0.51

J

0 (0.0%)

1 (0.3%)

0 (0.0%)

1 (0.1%)

–

–

–

–

–

–

J1

72 (7.9%)

25 (6.9%)

41 (9.2%)

64 (8.4%)

0.82 (0.50, 1.35)

0.44

1.11 (0.73, 1.67)

0.61

1.02 (0.71, 1.46)

0.93

J1d

1 (0.1%)

1 (0.3%)

0 (0.0%)

1 (0.1%)

–

–

–

–

–

–

J2a

13 (1.4%)

7 (1.9%)

9 (2.0%)

15 (2.0%)

1.80 (0.67, 4.89)

0.25

1.74 (0.70, 4.16)

0.22

1.66 (0.76, 3.62)

0.20

J2b

7 (0.8%)

4 (1.1%)

2 (0.4%)

6 (0.8%)

1.20 (0.32, 4.48)

0.79

–

–

0.95 (0.30, 2.95)

0.92

T, T1, and T2

77 (8.5%)

32 (8.9%)

45 (10.1%)

71 (9.4%)

1.16 (0.73, 1.84)

0.53

1.25 (0.84, 1.86)

0.26

1.17 (0.83, 1.67)

0.38

Ta

0 (0.0%)

1 (0.3%)

0 (0.0%)

1 (0.1%)

–

–

–

–

–

–

T1

17 (1.9%)

5 (1.4%)

8 (1.8%)

13 (1.7%)

0.64 (0.22, 1.85)

0.41

0.85 (0.34, 1.96)

0.71

0.83 (0.39, 1.76)

0.62

T2

60 (6.6%)

26 (7.2%)

37 (8.3%)

57 (7.5%)

1.27 (0.76, 2.12)

0.35

1.38 (0.89, 2.14)

0.15

1.25 (0.84, 1.85)

0.26

U, U1, U3, U5, U6, and U8b'c

130 (14.3%)

53 (14.7%)

67 (15.0%)

110 (14.5%)

0.97 (0.67, 1.40)

0.89

1.01 (0.73, 1.40)

0.95

0.96 (0.72, 1.28)

0.79

U

44 (4.8%)

22 (6.1%)

21 (4.7%)

40 (5.3%)

1.12 (0.64, 1.96)

0.68

0.89 (0.51, 1.51)

0.66

0.97 (0.61, 1.52)

0.88

U1a

1 (0.1%)

0 (0.0%)

2 (0.4%)

2 (0.3%)

–

–

–

–

–

–

U3a

8 (0.9%)

0 (0.0%)

1 (0.2%)

1 (0.1%)

–

–

–

–

–

–

U5

74 (8.1%)

30 (8.3%)

42 (9.4%)

65 (8.6%)

0.99 (0.62, 1.59)

0.97

1.13 (0.74, 1.68)

0.57

1.02 (0.71, 1.47)

0.90

U6a

3 (0.3%)

1 (0.3%)

0 (0.0%)

1 (0.1%)

–

–

–

–

–

–

U8b'ca

0 (0.0%)

0 (0.0%)

1 (0.2%)

1 (0.1%)

–

–

–

–

–

–

K

78 (8.6%)

40 (11.1%)

43 (9.6%)

77 (10.2%)

1.23 (0.80, 1.88)

0.35

1.12 (0.74, 1.66)

0.59

1.15 (0.81, 1.62)

0.44

  1. OR = odds ratio; CI = confidence interval. ORs, 95% CIs, and p-values result from logistic regression models that were adjusted for age and sex. The 47 cases that were in both the clinical DLB series and the LBD with a high likelihood of DLB series were included only once in the overall DLB series. After applying a Bonferroni correction for multiple testing, P-values <  0.0023 (clinical DLB vs. controls), <  0.0024 (LBD with a high likelihood of DLB vs. controls), and <  0.0022 (overall DLB vs. controls) were considered as statistically significant.
  2. aHaplogroups that occurred in < 10 subjects in a given association analysis were not examined.
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