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Table 2 Associations of individual mitochondrial DNA haplogroups with risk of PSP and CBD (compared to controls) were evaluated using multivariable logistic regression models adjusted for age and sex

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

Mitochondrial DNA Haplogroup Haplogroup frequency, No. (%) PSP versus controls CBD versus controls
Controls (N = 910) PSP patients (N = 1042) CBD patients (N = 171) OR (95% CI) P value OR (95% CI) P value
Na 2 (0.2%) 0 (0.0%) 0 (0.0%)
N1 5 (0.5%) 6 (0.6%) 0 (0.0%) 1.08 (0.33, 3.58) 0.90
I 31 (3.4%) 23 (2.2%) 2 (1.2%) 0.56 (0.32, 0.98) 0.041 0.24 (0.06, 1.05) 0.058
W 15 (1.6%) 22 (2.1%) 3 (1.8%) 1.37 (0.70, 2.67) 0.36 1.27 (0.35, 4.54) 0.72
X 8 (0.9%) 18 (1.7%) 5 (2.9%) 1.90 (0.81, 4.43) 0.14 3.48 (1.07, 11.33) 0.039
R and R0a 6 (0.7%) 10 (1.0%) 2 (1.2%) 1.33 (0.48, 3.72) 0.58
HV and HV0a 22 (2.4%) 16 (1.5%) 2 (1.2%) 0.67 (0.35, 1.30) 0.24 0.54 (0.12, 2.35) 0.41
H, H1, H2, H3, and H4 423 (46.5%) 469 (45.0%) 84 (49.1%) 0.94 (0.78, 1.13) 0.50 1.11 (0.79, 1.55) 0.54
H 199 (21.9%) 200 (19.2%) 30 (17.5%) 0.84 (0.68, 1.05) 0.14 0.76 (0.49, 1.17) 0.21
H1 145 (15.9%) 171 (16.4%) 31 (18.1%) 1.03 (0.80, 1.31) 0.84 1.16 (0.75, 1.79) 0.52
H2 36 (4.0%) 34 (3.3%) 5 (2.9%) 0.78 (0.48, 1.27) 0.32 0.65 (0.25, 1.73) 0.39
H3 32 (3.5%) 49 (4.7%) 9 (5.3%) 1.47 (0.93, 2.33) 0.10 1.76 (0.81, 3.83) 0.16
H4 11 (1.2%) 15 (1.4%) 9 (5.3%) 1.18 (0.54, 2.60) 0.68 4.51 (1.8, 11.31) 0.001
V 18 (2.0%) 29 (2.8%) 3 (1.8%) 1.37 (0.75, 2.50) 0.31 0.79 (0.23, 2.79) 0.72
JTa 2 (0.2%) 3 (0.3%) 0 (0.0%)
J1, J1d, J2a, and J2b 93 (10.2%) 125 (12.0%) 18 (10.5%) 1.23 (0.92, 1.64) 0.15 1.11 (0.65, 1.92) 0.70
J1 72 (7.9%) 98 (9.4%) 17 (9.9%) 1.23 (0.89, 1.69) 0.21 1.35 (0.76, 2.39) 0.30
J1da 1 (0.1%) 0 (0.0%) 0 (0.0%)
J2a 13 (1.4%) 24 (2.3%) 1 (0.6%) 1.77 (0.89, 3.53) 0.10 0.49 (0.06, 3.84) 0.50
J2b 7 (0.8%) 3 (0.3%) 0 (0.0%) 0.39 (0.10, 1.52) 0.17
T, T1, and T2 77 (8.5%) 102 (9.8%) 22 (12.9%) 1.20 (0.88, 1.64) 0.26 1.72 (1.02, 2.89) 0.042
Ta 0 (0.0%) 2 (0.2%) 1 (0.6%)
T1 17 (1.9%) 22 (2.1%) 4 (2.3%) 1.10 (0.58, 2.10) 0.77 1.16 (0.37, 3.6) 0.80
T2 60 (6.6%) 78 (7.5%) 17 (9.9%) 1.19 (0.84, 1.70) 0.33 1.74 (0.97, 3.11) 0.063
U, U1, U3, U5, and U6 130 (14.3%) 138 (13.2%) 19 (11.1%) 0.88 (0.68, 1.15) 0.36 0.71 (0.42, 1.19) 0.19
U 44 (4.8%) 56 (5.4%) 7 (4.1%) 1.07 (0.71, 1.61) 0.74 0.84 (0.36, 1.92) 0.68
U1a 1 (0.1%) 1 (0.1%) 0 (0.0%)
U3a 8 (0.9%) 0 (0.0%) 0 (0.0%)
U5 74 (8.1%) 80 (7.7%) 12 (7.0%) 0.92 (0.66, 1.28) 0.60 0.79 (0.41, 1.51) 0.48
U6a 3 (0.3%) 1 (0.1%) 0 (0.0%)
K 78 (8.6%) 80 (7.7%) 11 (6.4%) 0.92 (0.66, 1.28) 0.62 0.72 (0.37, 1.41) 0.35
  1. After applying a Bonferroni correction for multiple testing, association P values ≤ 0.0021 (PSP vs. controls analysis) and ≤ 0.0024 (CBD vs. controls) are considered statistically significant
  2. aStatistical tests were not performed for these haplogroups owing to their rare frequency (< 10 subjects in the given haplogroup for the given comparison [PSP vs. controls or CBD vs. controls]). OR = odds ratio; CI = confidence interval at 95%