Table 2.
Associations of APOE genotype with risk of PSP and CBD
| Association (vs. ε3/ε3 unless otherwise noted) | No. (%) in controls | No. (%) in PSP | No. (%) in CBD | Association with PSP (vs. controls) | Association with CBD (vs. controls) | ||
|---|---|---|---|---|---|---|---|
| OR (95% CI) | P-value | OR (95% CI) | P-value | ||||
| All subjects | N = 1406 | N = 994 | N = 134 | ||||
| Presence of ε2 | 261 (18.6) | 151 (15.2) | 20 (14.9) | 0.75 (0.59, 0.95) | 0.019 | 0.90 (0.53, 1.55) | 0.71 |
| Presence of ε4 | 376 (26.7) | 241 (24.2) | 49 (36.6) | 0.82 (0.67, 1.01) | 0.058 | 1.44 (0.97, 2.16) | 0.071 |
| APOE genotype | |||||||
| ε2/ε2 | 5 (0.4) | 13 (1.3) | 2 (1.5) | 4.38 (1.44, 13.33) | 0.009 | 5.24 (0.89, 31.04) | 0.068 |
| ε2/ε3 | 210 (14.9) | 116 (11.7) | 14 (10.5) | 0.69 (0.53, 0.90) | 0.0063 | 0.80 (0.44, 1.47) | 0.47 |
| ε2/ε4 | 46 (3.3) | 22 (2.2) | 4 (3.0) | 0.67 (0.39, 1.18) | 0.17 | 0.94 (0.27, 3.19) | 0.91 |
| ε3/ε3 | 815 (58.0) | 624 (62.8) | 69 (51.5) | 1.00 (reference) | N/A | 1.00 (reference) | N/A |
| ε3/ε4 | 313 (22.3) | 201 (20.2) | 42 (31.3) | 0.81 (0.65, 1.01) | 0.064 | 1.49 (0.98, 2.27) | 0.060 |
| ε4/ε4 | 17 (1.2) | 18 (1.8) | 3 (2.2) | 1.32 (0.65, 2.71) | 0.44 | 1.69 (0.46, 6.24) | 0.43 |
| Presence of ε2/ε2 vs. all other genotypes | 5 (0.4) | 13 (1.3) | 2 (1.5) | 4.41 (1.54, 12.61) | 0.0057 | 4.86 (0.81, 29.01) | 0.083 |
| Excluding MAPT H1/H1 subjects | N = 599 | N = 109 | N = 17 | ||||
| Presence of ε2 | 114 (19.0) | 15 (13.8) | 3 (17.7) | 0.63 (0.34, 1.15) | 0.13 | 1.11 (0.29, 4.22) | 0.88 |
| Presence of ε4 | 157 (26.2) | 26 (23.9) | 5 (29.4) | 0.82 (0.50, 1.35) | 0.44 | 1.32 (0.43, 4.04) | 0.63 |
| APOE genotype | |||||||
| ε2/ε2 | 2 (0.3) | 4 (3.7) | 1 (5.9) | 8.09 (1.43, 45.81) | 0.018 | 20.79 (1.56, 277.20) | 0.022 |
| ε2/ε3 | 87 (14.5) | 10 (9.2) | 2 (11.8) | 0.55 (0.27, 1.12) | 0.099 | 0.91 (0.19, 4.31) | 0.90 |
| ε2/ε4 | 25 (4.2) | 1 (0.9) | 0 (0.0) | 0.18 (0.023, 1.37) | 0.098 | N/A | 1.00a |
| ε3/ε3 | 353 (58.9) | 69 (63.3) | 9 (52.9) | 1.00 (reference) | N/A | 1.00 (reference) | N/A |
| ε3/ε4 | 125 (20.9) | 24 (22.0) | 5 (29.4) | 0.96 (0.57, 1.60) | 0.87 | 1.62 (0.53, 4.97) | 0.40 |
| ε4/ε4 | 7 (1.2) | 1 (0.9) | 0 (0.0) | 0.67 (0.08, 5.60) | 0.71 | N/A | 1.00a |
| Presence of ε2/ε2 vs. all other genotypes | 2 (0.3) | 4 (3.7) | 1 (5.9) | 9.56 (1.71, 53.38) | 0.010 | 21.40 (1.70, 270.53) | 0.018 |
ORs, 95% CIs, and P-values result from logistic regression models adjusted for age, gender, and number of MAPT H1 alleles (number of MAPT H1 alleles was not adjusted for in analysis excluding MAPT H1/H1 subjects). The ε3/ε3 genotype was the reference category for all comparisons unless otherwise noted
OR odds ratio, CI confidence interval
aP-value results from Fisher’s exact test due to the absence of CBD patients with an ε2/ε4 or ε4/ε4 genotype. P-values ≤ 0.00625 were considered as statistically significant after applying a Bonferroni correction for the eight statistical tests that were performed in the separate PSP vs. controls and CBD vs. controls analyses