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
| 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 |
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
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