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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