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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.