Table 1.
Cohort clinical, demographic, and genetic information
| EOAD | LOAD | Control | |
|---|---|---|---|
| Number | 912 | 492 | 504 |
| Sex, n (%) | |||
| Female | 425 (46.6) | 243 (49.39) | 282 (56) |
| Male | 487 | 249 | 222 |
| Age at onset | |||
| Mean (SD) | 58 (5.16) | 71 (5.34) | n/a |
| Range | 28–65 | 66–90 | n/a |
| Age at inclusiona | |||
| Mean (SD) | 64 (5.7) | 76 (5.46) | 82.5 (6.8) |
| Range | 30–90 | 66–97 | 59–100 |
| Disease duration (SD) | 5.7 (3.6) | 4.5 (2.9) | n/a |
| MMSE score (SD) | 16.34 (10) | 18 (9.23) | 27.4 (5.5) |
| APOE status, n (%) | |||
| ε4 (−) | 402 | 184 | 400 |
| ε4 (+) | 491 (55) | 289 (61) | 93 (18.9) |
| CLU rs11136000, n (%) (MAF_A = 0.3659, MAF_U = 0.4) | |||
| CC | 370 (40.57) | 204 (41.46) | 172 (34.68) |
| TC | 412 (45.18) | 227 (46.14) | 242 (48.79) |
| TT | 130 (14.25) | 61 (12.4) | 82 (16.53) |
| CLU rs9331888, n (%) (MAF_A = 0.29, MAF_U = 0.28) | |||
| CC | 462 (50.77) | 236 (51.42) | 254 (51.84) |
| GC | 374 (41.1) | 177 (38.56) | 201 (41.02) |
| GG | 74 (8.13) | 46 (10.02) | 35 (7.14) |
| CR1 rs6656401, n (%) (MAF_A = 0.1958, MAF_U = 0.1735) | |||
| GG | 596 (65.49) | 290 (63.18) | 336 (68.71) |
| AG | 285 (31.32) | 145 (31.59) | 137 (28.02) |
| AA | 29 (3.19) | 24 (5.23) | 16 (3.27) |
| CR1 rs6691117, n (%) (MAF_A = 0.1822, MAF_U = 0.1792) | |||
| AA | 593 (65.02) | 332 (67.48) | 337 (68.08) |
| GA | 299 (32.79) | 148 (30.08) | 144 (29.09) |
| GG | 20 (2.19) | 12 (2.44) | 14 (2.83) |
| C1S rs3919533, n (%) (MAF_A = 0.1545, MAF_U = 0.1667) | |||
| TT | 659 (72.26) | 336 (68.43) | 345 (68.86) |
| CT | 237 (25.99) | 146 (29.74) | 138 (27.54) |
| CC | 16 (1.75) | 9 (1.83) | 18 (3.6) |
| CFH rs6664877, n (%) (MAF_A = 0.175, MAF_U = 0.1549) | |||
| CC | 575 (65.64) | 309 (69.44) | 313 (71.62) |
| TC | 286 (32.65) | 124 (27.87) | 114 (26.1) |
| TT | 15 (1.71) | 12 (2.69) | 10 (2.28) |
EOAD early onset AD, LOAD late onset AD, MMSE mini mental state examination, MAF_A minor allele frequency in individuals with AD, MAF_U minor allele frequency in control individuals
aEOAD and LOAD subjects were significantly younger than control subjects (p < 0.0001)