Table 2.
Comparison of frequencies of rare (excluding the full penetrant) and common risk variants in our sample (This study) versus controls, late onset and early onset AD patients (LOAD and EOAD, respectively) obtained from ADNI database
| Variants | |||||||||||||
| n = 0 | n = 1 | n≥2 | |||||||||||
| total | Only | Only | total | Only | Only | 1 rare | 1 rare | 2 rare | 2 rare | 3 rare | Total | ||
| rare | common | rare | common | + | + | + | + | + | |||||
| 1 common | 2 common | 1 common | 2 common | 1 common | |||||||||
| Groups | Sample (N) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) | N (%) |
| Controls (272) | 67 (25) | 9 (7) | 123 (93) | 132 (49) | 2 (3) | 28 (38) | 25 (34) | 8 (11) | 8 (11) | 0 (0) | 2 (3) | 73 (27)$£ | |
| ADNI | LOAD (38) | 3 (8) | 0 (0) | 22 (100) | 22 (58) | 0 (0) | 10 (77) | 2 (15) | 0 (0) | 1 (8) | 0 (0) | 0 (0) | 13 (34)$£ |
| EOAD (7) | 1 (14) | 0 (0) | 2 (0) | 2 (29) | 0 (0) | 3 (75) | 1 (25) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (57) | |
| This study | AD (13) | 1 (8) | 0 (0) | 3 (100) | 3 (23) | 0 (0) | 2 (22) | 4 (44) | 2 (22) | 0 (0) | 1 (11) | 0 (0) | 9 (69)$ |
| ADNI + This study | EOAD + AD (20) | 2 (10) | 0 (0) | 5 (100) | 5 (25) | 0 (0) | 5 (38) | 5 (38) | 2 (15) | 0 (0) | 1 (8) | 0 (0) | 13 (65)£ |
$Chi-squared test: Controls versus LOAD-ADNI versus AD-our study, χ2 = 15.8, df = 4, p = 0.003. £Chi-squared test: Controls versus LOAD-ADNI versus EOAD-ADNI+AD-our study, χ2 = 17.9, df = 4, p = 0.001.