Table 2.
Associations between MAPT haplotypes and risk of CBD
| 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 |
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
CBD corticobasal degeneration, OR odds ratio, CI confidence interval
1The H1f haplotype was not observed in CBD cases, and therefore estimation of an OR was not possible