Table 1.
Demographics of participants of CSF and plasma in DIAN
| Descriptive | CSF |
Plasma |
||||
|---|---|---|---|---|---|---|
| MCs | NCs | p value | MCs | NCs | p value | |
| Sample size | 286 | 177 | NT | 325 | 213 | NT |
| PSEN1 (% of MCs) | 212 (74) | 0 | 240 (74) | 0 | ||
| PSEN2 (% of MCs) | 23 (8) | 0 | 25 (8) | 0 | ||
| APP (% of MCs) | 51 (18) | 0 | 60 (18) | 0 | ||
| Affected carrier (% of MCs) | 102 (36) | 0 | 7.58 × 10−103 | 127 (39) | 0 | 2.77 × 10−116 |
| Presymptomatic carrier (% of MCs) | 184 (64) | 0 | 198 (61) | 0 | ||
| AD non-carrier (% of NCs) | 0 | 6 (4) | 0 | 12 (6) | ||
| Control non-carrier (% of NCs) | 0 | 171 (96) | 0 | 201 (93) | ||
| Age mean (SD), years | 40.0 (10.4) | 39.6 (11.6) | 0.63 | 40.4 (10.6) | 40.7 (11.6) | 0.70 |
| Female Sex n (%) | 159 (55) | 109 (59) | 0.36 | 178 (55) | 127 (59) | 0.38 |
| EYO (SD), years | −6.6 (10.4) | −7.8 (12.5) | 0.39 | −6.3 (11.06) | −7.9 (11.7) | 0.12 |
| APOE ε4+ N (%), at least one allele | 83 (29) | 61 (33) | 0.30 | 97 (30) | 71 (33) | 0.46 |
Chi-squared test used to test subtypes differences between MCs and NCs; not tested (NT), because of all the NCs without any mutation, chi-squared test does not apply to compare the subtypes of mutations between MCs and NCs.SD, standard deviation; MCs, mutation carriers; NCs, non-carriers.