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Table 4 Associations of individual mitochondrial DNA haplogroups with CB, NFT, TA, and NT tau pathology scores in CBD cases with measured tau pathology scores (N = 150) from linear regression models that were adjusted for age at death, sex, Braak, and Thal phase

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

Mitochondrial DNA Haplogroup

No. (%) in haplogroup (N = 150)

Association with CB tau pathology score

Association with NFT tau pathology score

Association with TA tau pathology score

Association with NT tau pathology score

Regression coefficient (95% CI)

P Value

Regression coefficient (95% CI)

P Value

Regression coefficient (95% CI)

P Value

Regression coefficient (95% CI)

P Value

Ia

1 (0.7%)

–

–

–

–

–

–

–

–

Wa

3 (2.0%)

–

–

–

–

–

–

–

–

Xa

4 (2.7%)

–

–

–

–

–

–

–

–

R and R0a

2 (1.3%)

–

–

–

–

–

–

–

–

HV and HV0aa

2 (1.3%)

–

–

–

–

–

–

–

–

H, H1, H2, H3 and H4

71 (47.3%)

0.02 (−0.07, 0.11)

0.68

−0.02 (−0.10, 0.06)

0.65

0.00 (−0.04, 0.05)

0.83

−0.04 (−0.13, 0.05)

0.43

H

25 (16.7%)

0.03 (−0.09, 0.15)

0.66

0.11 (0.00, 0.22)

0.046

0.01 (−0.05, 0.07)

0.78

0.09 (−0.03, 0.21)

0.16

H1

26 (17.3%)

0.05 (−0.07, 0.17)

0.45

−0.09 (−0.20, 0.03)

0.13

0.00 (−0.06, 0.06)

0.99

−0.04 (−0.17, 0.08)

0.48

H2a

4 (2.7%)

–

–

–

–

–

–

–

–

H3a

8 (5.3%)

–

–

–

–

–

–

–

–

H4

8 (5.3%)

−0.08 (−0.28, 0.11)

0.41

0.12 (−0.07, 0.30)

0.22

0.04 (−0.06, 0.13)

0.43

0.10 (−0.10, 0.30)

0.33

Va

3 (2.0%)

–

–

–

–

–

–

–

–

J1 and J2a

14 (9.3%)

0.09 (−0.06, 0.25)

0.23

−0.01 (−0.15, 0.13)

0.90

0.02 (−0.06, 0.09)

0.65

0.09 (−0.06, 0.25)

0.25

J1

13 (8.7%)

0.07 (−0.09, 0.23)

0.40

−0.01 (−0.16, 0.14)

0.90

−0.01 (−0.09, 0.06)

0.73

0.08 (−0.08, 0.24)

0.34

J2aa

1 (0.7%)

–

–

–

–

–

–

–

–

T, T1 and T2

21 (14.0%)

0.08 (−0.05, 0.21)

0.24

0.03 (−0.09, 0.15)

0.59

0.02 (−0.04, 0.09)

0.44

0.01 (−0.12, 0.14)

0.90

Ta

1 (0.7%)

–

–

–

–

–

–

–

–

T1a

4 (2.7%)

–

–

–

–

–

–

–

–

T2

16 (10.7%)

0.10 (−0.05, 0.24)

0.19

0.02 (−0.12, 0.15)

0.80

0.02 (−0.11, 0.16)

0.73

0.00 (−0.14, 0.15)

0.97

U and U5

18 (12.0%)

−0.11 (−0.24, 0.03)

0.12

0.01 (−0.11, 0.14)

0.82

−0.05 (−0.11, 0.02)

0.16

−0.06 (−0.20, 0.08)

0.40

Ua

7 (4.7%)

–

–

–

–

–

–

–

–

U5

11 (7.3%)

0.02 (−0.15, 0.20)

0.78

0.01 (−0.15, 0.17)

0.94

−0.07 (−0.15, 0.01)

0.11

0.02 (−0.15, 0.20)

0.78

K

11 (7.3%)

−0.16 (−0.33, 0.01)

0.073

−0.05 (−0.21, 0.11)

0.56

−0.01 (−0.09, 0.07)

0.82

−0.03 (−0.21, 0.14)

0.71

  1. Regression coefficients are interpreted as the increase in mean CB, NFT, TA, or NT tau pathology scores for patients in the given mitochondrial DNA haplogroup compared to patients not in the given haplogroup (non-haplogroup). P values ≤ 0.0045 are considered statistically significant after applying a Bonferroni correction for multiple testing
  2. aStatistical tests were not performed for these haplogroups owing to their rare frequency (< 10 PSP cases in the given haplogroup, with the exception of haplogroup H4 which was examined despite the fact that it occurred in only 8 cases owing to the fact that it was of specific interest due to its significant association with risk of CBD). CB = coiled bodies; NFT = neurofibrillary tangles; TA = tufted astrocytes; NT = neuropil threads; CI = confidence interval
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Acta Neuropathologica Communications

ISSN: 2051-5960

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