Table 3.
Associations between MAPT haplotypes and clinical features
| Haplotype | Clinical feature haplotype is associated with | Haplotype frequency (%) | OR (95% CI) | P‐value | |
|---|---|---|---|---|---|
|
Patients with the given clinical feature |
Patients without the given clinical feature | ||||
| Significant associations (P < 0.0029) | |||||
| H1b (GGGCAA) | Orthostatic hypotension at most recent visit | 26.8% | 17.6% | 1.72 (1.23, 2.40) | 0.001 |
| H1j (AGGCAG) | Rest tremor at initial visit | 0.4% | 2.9% | 0.15 (0.04, 0.48) | 0.0003 |
| H1j (AGGCAG) | RBD at initial visit | 3.3% | 1.1% | 3.87 (1.83, 8.20) | 0.0004 |
| H1r (AGGTAG) | Bradykinesia at initial visit | 1.2% | 8.4% | 0.11 (0.03, 0.34) | 1 × 10‐7 |
| H1v (GGATAG) | RLS at initial visit | 7.4% | 1.4% | 4.02 (1.15, 14.08) | 0.002 |
| Suggestive associations (P < 0.01) | |||||
| H1b (GGGCAA) | Dyskinesia at initial visit | 26.9% | 18.2% | 1.84 (1.20, 2.82) | 0.004 |
| H1f (GGACAA) | Dystonia at most recent visit | 3.7% | 0.8% | 4.96 (1.49, 16.54) | 0.006 |
| H1f (GGACAA) | (Pseudo)hallucinations at most recent visit | 2.9% | 1.0% | 4.55 (1.22, 16.89) | 0.009 |
| H1v (GGATAG) | Depression at initial visit | 0.0% | 2.3% | N/A1 | 0.007 |
RBD, REM sleep behavior disorder; RLS, restless legs syndrome; OR, odds ratio; CI, Confidence interval.
P‐values result from score tests of association. Tests involving specific features at initial and most recent visit were adjusted for age at the given visit, disease duration at the given visit, levodopa use at the given visit, and sex. The order of the variants in defining the haplotype alleles is rs1467967, rs242557, rs3785883, rs2471738, rs8070723, and rs7521. 1Estimation of OR was not possible since estimated haplotype frequency in patients with depression at the initial visit was 0.0%.