Table 1.
The number of LOAD cases and normal controls, high-risk normal controls (“resilient” individuals), and risk-matched LOAD cases identified in each of the discovery and replication studies.
| Design 1 | Design 2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Normal controls | LOAD cases | Normal controls | LOAD cases | |||||||||||
| Study | Sub-study | N High-risk | N Total | % Retained | N Risk-matched | N Total | % Retained | N High-risk | N Total | % Retained | N Risk-matched | N Total | % Retained | |
| Discovery | ADGC | ADC1 | 52 | 512 | 10.2 | 842 | 1524 | 55.2 | 30 | 150 | 20.0 | 773 | 1021 | 75.7 |
| ADC2 | 16 | 155 | 10.3 | 386 | 620 | 62.3 | 9 | 41 | 22.0 | 212 | 353 | 60.1 | ||
| ADC3 | 57 | 566 | 10.1 | 379 | 666 | 56.9 | 27 | 132 | 20.5 | 357 | 391 | 91.3 | ||
| ADC4 | 38 | 376 | 10.1 | 222 | 304 | 73.0 | 20 | 100 | 20.0 | 115 | 160 | 71.9 | ||
| ADC5 | 51 | 503 | 10.1 | 187 | 285 | 65.6 | 24 | 119 | 20.2 | 147 | 178 | 82.6 | ||
| ADC6 | 34 | 337 | 10.1 | 68 | 213 | 31.9 | 19 | 93 | 20.4 | 94 | 121 | 77.7 | ||
| MAYO | 112 | 1117 | 10.0 | 626 | 754 | 83.0 | 63 | 313 | 20.1 | 436 | 492 | 88.6 | ||
| UMVUMSSM | 113 | 1108 | 10.2 | 753 | 1123 | 67.1 | 51 | 251 | 20.3 | 430 | 661 | 65.1 | ||
| ACT + GenDiff | 157 | 1556 | 10.1 | 425 | 524 | 81.1 | 63 | 314 | 20.1 | 198 | 234 | 84.6 | ||
| MIRAGE | 51 | 509 | 10.0 | 101 | 137 | 73.7 | 38 | 190 | 20.0 | 68 | 78 | 87.2 | ||
| WASHU1 | 18 | 176 | 10.2 | 137 | 253 | 54.2 | 10 | 48 | 20.8 | 65 | 141 | 46.1 | ||
| ROSMAP | 72 | 717 | 10.0 | 192 | 237 | 81.0 | 23 | 114 | 20.2 | 18 | 87 | 20.7 | ||
| UPITT | 82 | 811 | 10.1 | 794 | 1152 | 68.9 | 32 | 158 | 20.3 | 545 | 664 | 82.1 | ||
| OHSU | 18 | 180 | 10.0 | 119 | 174 | 68.4 | 5 | 25 | 20.0 | 49 | 73 | 67.1 | ||
| Tgen II | 36 | 360 | 10.0 | 364 | 613 | 59.4 | 16 | 76 | 21.1 | 251 | 396 | 63.4 | ||
| NIA-LOAD | 102 | 1007 | 10.1 | 582 | 760 | 76.6 | 58 | 289 | 20.1 | 463 | 571 | 81.1 | ||
| ROSMAP2 | 22 | 214 | 10.3 | 50 | 59 | 84.7 | 3 | 15 | 20.0 | 0 | 18 | 0.0 | ||
| WASHU2 | 8 | 71 | 11.3 | 29 | 36 | 80.6 | 4 | 16 | 25.0 | 16 | 19 | 84.2 | ||
| MTC | 19 | 188 | 10.1 | 220 | 252 | 87.3 | 5 | 22 | 22.7 | 48 | 143 | 33.6 | ||
| TARCC | 18 | 176 | 10.2 | 241 | 306 | 78.8 | 10 | 47 | 21.3 | 122 | 184 | 66.3 | ||
| WHICAP | 56 | 553 | 10.1 | 17 | 72 | 23.6 | 23 | 113 | 20.4 | 8 | 16 | 50.0 | ||
| ADNI | ADNI-1 | 13 | 127 | 10.2 | 174 | 350 | 49.7 | 6 | 28 | 21.4 | 97 | 230 | 42.2 | |
| CHARGE | CHS | 168 | 1661 | 10.1 | 274 | 451 | 60.8 | 66 | 330 | 20.0 | 99 | 148 | 66.9 | |
| FHS | 191 | 1901 | 10.0 | 137 | 288 | 47.6 | 74 | 370 | 20.0 | 54 | 94 | 57.4 | ||
| EADI | 620 | 6172 | 10.0 | 1636 | 2167 | 75.5 | 247 | 1235 | 20.0 | 870 | 1072 | 81.2 | ||
| GERAD | 139 | 1388 | 10.0 | 2354 | 2992 | 78.7 | 62 | 310 | 20.0 | 1006 | 1623 | 62.0 | ||
| N Total | 2263 | 22441 | 10.1 | 11309 | 16312 | 69.3 | 988 | 4899 | 20.2 | 6541 | 9168 | 71.3 | ||
| Replication | AddNeuroMed | 19 | 183 | 10.4 | 38 | 223 | 17.0 | 9 | 44 | 20.5 | 19 | 121 | 15.7 | |
| ADGC | ADC7 | 79 | 784 | 10.1 | 45 | 513 | 8.8 | 51 | 252 | 20.2 | 57 | 320 | 17.8 | |
| ADNI | ADNI-GO/2/3 | 38 | 374 | 10.2 | 37 | 211 | 17.5 | 23 | 113 | 20.4 | 38 | 142 | 26.8 | |
| PGC-ALZ | Norwegian DemGene Network | 75 | 741 | 10.1 | 163 | 1085 | 15.0 | 34 | 168 | 20.2 | 130 | 671 | 19.4 | |
| GENDER/SATSA/HARMONY | 77 | 764 | 10.1 | 39 | 306 | 12.7 | 40 | 196 | 20.4 | 34 | 148 | 23.0 | ||
| TwinGene | 608 | 6080 | 10.0 | 30 | 287 | 10.5 | 353 | 1765 | 20.0 | 31 | 156 | 19.9 | ||
| AIBL | 77 | 762 | 10.1 | 13 | 111 | 11.7 | 36 | 180 | 20.0 | 12 | 71 | 16.9 | ||
| Sydney MAS | 83 | 830 | 10.0 | 16 | 95 | 16.8 | 37 | 182 | 20.3 | 10 | 31 | 32.3 | ||
| N Total | 1056 | 10518 | 10.0 | 381 | 2831 | 13.5 | 583 | 2900 | 20.1 | 331 | 1660 | 19.9 | ||
LOAD late-onset Alzheimer’s disease.
Note: “Retained” column indicates the percentage of high-risk normal controls of all normal controls retained for resilience genome-wide association analysis per study, or the percentage of risk-matched LOAD cases of all LOAD cases retained in analysis per study. ROSMAP2 study had no LOAD cases (in italic) whose risk matched with high-risk normal controls in design 2, and was not included in the analysis for design 2.
A list of study full names is in Supplementary Table 2.