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Table 2 Associations between MAPT haplotypes and risk of CBD

From: MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

Haplotype

MAPT variant

Haplotype frequency (%)

Association with CBD

rs1467967

rs242557

rs3785883

rs2471738

rs8070723

rs7521

CBD patients (N = 230)

Controls (N = 1312)

OR (95% CI)

P value

H1b

G

G

G

C

A

A

20.2

16.0

1.31 (1.00, 1.72)

0.049

H1c

A

A

G

T

A

G

15.2

11.3

1.49 (1.11, 2.00)

0.009

H1d

A

A

G

C

A

A

10.9

7.1

1.76 (1.22, 2.52)

0.002

H1e

A

G

G

C

A

A

7.5

9.0

0.92 (0.62, 1.36)

0.66

H1f

G

G

A

C

A

A

0.0

1.2

N/A1

0.14

H1g

G

A

A

C

A

A

1.6

1.1

1.45 (0.53, 3.96)

0.47

H1h

A

G

A

C

A

A

5.4

4.1

1.22 (0.72, 2.08)

0.47

H1i

G

A

G

C

A

A

5.9

4.4

1.65 (1.01, 2.70)

0.047

H1l

A

G

A

C

A

G

3.7

3.0

1.10 (0.61, 1.99)

0.75

H1m

G

A

G

C

A

G

1.6

2.9

0.77 (0.36, 1.64)

0.50

H1o

A

A

A

C

A

A

3.5

2.3

1.81 (0.93, 3.50)

0.080

H1p

G

G

G

T

A

G

0.9

1.5

0.82 (0.28, 2.43)

0.72

H1q

A

A

G

T

A

A

1.3

1.0

1.49 (0.57, 3.89)

0.42

H1r

A

G

G

T

A

G

2.6

1.1

2.03 (0.83, 4.93)

0.12

H1u

A

A

G

C

A

G

4.4

2.4

1.60 (0.87, 2.95)

0.13

H1v

G

G

A

T

A

G

1.7

1.2

1.10 (0.40, 3.03)

0.85

H1x

G

A

A

T

A

G

2.2

1.3

1.54 (0.64, 3.68)

0.34

H1y

A

A

A

T

A

G

0.5

1.6

0.54 (0.15, 1.95)

0.35

H2

A

G

G

C

G

G

7.1

22.7

0.26 (0.18, 0.38)

2 × 10−12

  1. ORs, 95% CIs, and P values result from score tests of association that were adjusted for age and sex. ORs correspond to each additional copy of the given haplotype. P values < 0.0026 are considered as statistically significant after applying a Bonferroni correction for multiple testing
  2. CBD corticobasal degeneration, OR odds ratio, CI confidence interval
  3. 1The H1f haplotype was not observed in CBD cases, and therefore estimation of an OR was not possible