Skip to main content

Table 3 Associations of individual mitochondrial DNA haplogroups with CB, NFT, AP, and NT tau pathology scores in PSP cases with measured tau pathology scores (N = 764) 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 = 764)

Association with CB tau pathology score

Association with NFT tau pathology score

Association with AP 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

I

18 (2.4%)

0.05 (−0.11, 0.21)

0.53

0.05 (−0.09, 0.20)

0.47

−0.03 (−0.20, 0.13)

0.70

0.01 (−0.17, 0.18)

0.94

W

16 (2.1%)

0.03 (−0.14, 0.20)

0.70

0.09 (−0.07, 0.25)

0.26

−0.10 (−0.27, 0.08)

0.29

0.05 (−0.13, 0.23)

0.59

X

17 (2.2%)

−0.12 (−0.28, 0.05)

0.16

−0.07 (−0.22, 0.08)

0.38

−0.07 (−0.24, 0.10)

0.41

−0.12 (−0.30, 0.06)

0.18

R and R0a

5 (0.7%)

–

–

–

–

–

–

–

–

HV and HV0a

10 (1.3%)

−0.04 (−0.25, 0.17)

0.70

−0.09 (−0.29, 0.10)

0.36

−0.28 (−0.49, −0.06)

0.012

−0.35 (−0.58, −0.13)

0.0023

H, H1, H2, H3 and H4

337 (44.1%)

0.02 (−0.03, 0.06)

0.54

0.04 (0.00, 0.09)

0.055

0.01 (−0.04, 0.06)

0.81

0.05 (0.00, 0.10)

0.065

H

150 (19.6%)

0.03 (−0.03, 0.09)

0.28

0.05 (−0.01, 0.11)

0.082

0.01 (−0.05, 0.08)

0.70

0.05 (−0.02, 0.11)

0.14

H1

120 (15.7%)

−0.02 (−0.09, 0.04)

0.48

0.01 (−0.05, 0.07)

0.70

−0.04 (−0.11, 0.03)

0.30

0.00 (−0.07, 0.07)

0.95

H2

25 (3.3%)

0.02 (−0.12, 0.15)

0.82

0.09 (−0.04, 0.22)

0.16

0.04 (−0.10, 0.18)

0.61

0.06 (−0.08, 0.21)

0.41

H3

32 (4.2%)

−0.01 (−0.13, 0.11)

0.92

0.00 (−0.11, 0.11)

0.97

0.09 (−0.04, 0.21)

0.17

0.05 (−0.08, 0.18)

0.42

H4

10 (1.3%)

0.11 (−0.10, 0.32)

0.31

−0.11 (−0.30, 0.09)

0.28

−0.03 (−0.28, 0.21)

0.78

0.00 (−0.23, 0.23)

0.99

V

19 (2.5%)

−0.05 (−0.20, 0.11)

0.55

−0.12 (−0.27, 0.02)

0.095

0.06 (−0.10, 0.21)

0.49

−0.10 (−0.27, 0.07)

0.24

J1 and J2a

88 (11.5%)

−0.01 (−0.08, 0.07)

0.84

0.01 (−0.06, 0.08)

0.80

0.00 (−0.08, 0.08)

0.95

−0.06 (−0.15, 0.02)

0.12

J1

69 (9.0%)

0.01 (−0.07, 0.10)

0.73

0.03 (−0.05, 0.10)

0.51

0.01 (−0.08, 0.10)

0.77

−0.05 (−0.14, 0.04)

0.31

J2a

17 (2.2%)

−0.11 (−0.28, 0.05)

0.18

−0.07 (−0.22, 0.08)

0.36

−0.05 (−0.22, 0.13)

0.61

−0.14 (−0.31, 0.04)

0.13

T, T1 and T2

85 (11.1%)

−0.02 (−0.10, 0.05)

0.57

−0.09 (−0.17, −0.02)

0.009

0.02 (−0.06, 0.10)

0.61

−0.04 (−0.12, 0.04)

0.37

Ta

2 (0.3%)

–

–

–

–

–

–

–

–

T1

19 (2.5%)

0.04 (−0.12, 0.19)

0.62

−0.07 (−0.22, 0.07)

0.32

0.08 (−0.08, 0.24)

0.32

0.04 (−0.13, 0.21)

0.64

T2

64 (8.4%)

−0.05 (−0.13, 0.04)

0.30

−0.1 (−0.18, −0.02)

0.011

0.00 (−0.09, 0.09)

0.99

−0.07 (−0.16, 0.02)

0.15

U and U5

104 (13.6%)

0.00 (−0.07, 0.07)

0.90

0.01 (−0.06, 0.07)

0.86

0.01 (−0.07, 0.08)

0.85

0.03 (−0.04, 0.11)

0.42

U

42 (5.5%)

−0.05 (−0.16, 0.06)

0.36

0.05 (−0.05, 0.14)

0.35

0.01 (−0.10, 0.12)

0.83

0.04 (−0.07, 0.15)

0.48

U5

61 (8.0%)

0.03 (−0.06, 0.12)

0.57

−0.03 (−0.11, 0.06)

0.54

0.00 (−0.10, 0.09)

0.92

0.02 (−0.08, 0.11)

0.72

K

56 (7.3%)

0.02 (−0.08, 0.11)

0.73

0.01 (−0.08, 0.09)

0.90

0.01 (−0.08, 0.11)

0.77

0.03 (−0.07, 0.13)

0.61

  1. Regression coefficients are interpreted as the increase in mean CB, NFT, AP, 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 ≤ 0.0024 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). CB = coiled bodies; NFT = neurofibrillary tangles; AP = astrocytic plaques; NT = neuropil threads; CI = confidence interval
Back to article page

Acta Neuropathologica Communications

ISSN: 2051-5960

Contact us