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Table 3 Associations of haplogroups with putaminal TH-ir (dorsolateral and ventromedial) and substantia nigra neuronal loss (ventrolateral and medial)

From: Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures

Mitochondrial DNA Haplogroup Haplogroup frequency,
No. (%), N = 242
Association with dorsolateral putaminal TH−ir Association with ventromedial putaminal TH−ir Association with ventrolateral substantia nigra
neuronal loss score
Association with medial substantia nigra neuronal
loss score
Regression coefficient (95% CI) P−value Regression coefficient (95% CI) P−value OR (95% CI) P-value OR (95% CI) P-value
Na 0 (0.0%)
N1a 0 (0.0%)
Ia 8 (3.3%)
Wa 2 (0.8%)
Xa 4 (1.7%)
R and R0a 1 (0.4%)
HV and HV0aa 8 (3.3%)
H, H1, H2, H3 and H4 91 (37.6%) −0.05 (−0.15, 0.05) 0.32 −0.11 (−0.40, 0.18) 0.45 0.80 (0.43, 1.46) 0.46 1.12 (0.63, 1.97) 0.70
H 40 (16.5%) 0.05 (−0.09, 0.18) 0.51 0.11 (−0.27, 0.49) 0.55 0.44 (0.21, 0.93) 0.033 0.54 (0.26, 1.10) 0.090
H1 27 (11.2%) −0.07 (−0.23, 0.09) 0.42 −0.13 (−0.58, 0.32) 0.57 1.33 (0.48, 3.68) 0.58 1.28 (0.52, 3.13) 0.59
H2a 8 (3.3%)
H3a 12 (5.0%) −0.04 (−0.26, 0.19) 0.75 −0.29 (−0.92, 0.34) 0.36 0.90 (0.25, 3.31) 0.88
H4a 4 (1.7%)
Va 8 (3.3%)
JTa 0 (0.0%)
J, J1, J1d, J2a and J2b 26 (10.7%) 0.06 (−0.09, 0.21) 0.42 0.05 (−0.37, 0.47) 0.81 0.87 (0.36, 2.09) 0.75 0.62 (0.28, 1.39) 0.25
Ja 0 (0.0%)
J1 23 (9.5%) 0.07 (−0.09, 0.22) 0.39 0.06 (−0.38, 0.50) 0.78 0.93 (0.37, 2.33) 0.87 0.72 (0.31, 1.69) 0.46
J1ad 0 (0.0%)
J2aa 2 (0.8%)
J2ba 1 (0.4%)
T, T1 and T2 30 (12.4%) −0.03 (−0.19, 0.13) 0.70 −0.07 (−0.52, 0.38) 0.74 1.42 (0.49, 4.11) 0.52 2.60 (0.87, 7.81) 0.088
T1 0 (0.0%)
T1a 4 (1.7%)
T2 26 (10.7%) 0.02 (−0.15, 0.19) 0.82 0.14 (−0.35, 0.63) 0.58 1.35 (0.42, 4.30) 0.62 2.52 (0.72, 8.80) 0.15
U, U1, U3, U5, U6 and U8b'c 41 (16.9%) −0.05 (−0.18, 0.08) 0.47 −0.15 (−0.53, 0.23) 0.44 1.75 (0.72, 4.24) 0.21 1.21 (0.57, 2.55) 0.62
U1 12 (5.0%)
U1a 2 (0.8%)
U3a 1 (0.4%)
U5 25 (10.3%) −0.04 (−0.20, 0.12) 0.66 −0.17 (−0.62, 0.28) 0.45 1.59 (0.56, 4.51) 0.39 1.41 (0.56, 3.53) 0.47
U6a 0 (0.0%)
U8b'ca 1 (0.4%)
K 23 (9.5%) 0.00 (−0.18, 0.17) 0.98 0.04 (−0.45, 0.54) 0.87 0.60 (0.23, 1.59) 0.31 1.29 (0.49, 3.39) 0.61
  1. For associations with putaminal TH-ir, regression coefficients, 95% CIs, and p-values result from linear regression models that were adjusted for age at death and sex, where due to their skewed distributions, lateral putaminal TH-ir was considered on the logarithm (base-10) scale and medial putaminal TH-ir was considered on the square root scale. Regression coefficients are interpreted as the additive increase on the mean outcome measure (on the logarithm or square root scale) for the given haplogroup. For associations with ventrolateral and medial substantia nigra neuronal loss scores, ORs, 95% CIs, and p-values result from proportional odds logistic regression models; ORs are interpreted at the multiplicative increase on the odds or a more severe neuronal loss score for the given haplogroup. After applying a Bonferroni correction for multiple testing separately for each outcome measure, P-values < 0.0045 (associations with lateral putaminal TH-ir, medial putaminal TH-ir, and ventrolateral substantia nigra neuronal loss score) and < 0.0050 (association with medial substantia nigra neuronal loss score) were considered statistically significant.
  2. aHaplogroups that occurred in < 10 subjects in a given association analysis not examined in that analysis. TH-ir=tyrosine hydroxylase immunoreactivity; CI = confidence interval; OR = odds ratio.