Table 1.
Study participants
| Noncarriers (N = 230) | Mutation carriers (N = 355) | ||||||
|---|---|---|---|---|---|---|---|
| n (%) | Mean | s.d. | n (%) | Mean | s.d. | P value | |
| Agea | 38.1 | 11.2 | 38.4 | 10.8 | 0.7 | ||
| Sex (male) | 96 (42) | 158 (45) | |||||
| Mutation | |||||||
| APP | 65 (18) | ||||||
| PSEN1 | 264 (74) | ||||||
| PSEN2 | 26 (7) | ||||||
| APOE genotype | |||||||
| ε2/2 | 3 (1) | 2 (1) | |||||
| ε2/3 | 22 (10) | 35 (10) | |||||
| ε2/4 | 7 (3) | 8 (2) | |||||
| ε3/3 | 134 (58) | 215 (61) | |||||
| ε3/4 | 61 (27) | 87 (25) | |||||
| ε4/4 | 3 (1) | 8 (2) | |||||
| EYOa | −9.4 | 11.2 | −7.4 | 10.9 | 0.01 | ||
|
SRM-MS protein measurements |
184 (80) | 286 (81) | |||||
| Aβ42/40 ratio | 196 (85) | 0.09 | 0.01 | 319 (90) | 0.07 | 0.03 | 5.67 × 10−12 |
| pTau181 (ng ml−1) | 152 (66) | 0.09 | 0.03 | 230 (65) | 0.19 | 0.15 | 3.50 × 10−15 |
| pTau202 (ng ml−1) | 152 (66) | 0.01 | 0.005 | 230 (65) | 0.02 | 0.009 | 1.75 × 10−8 |
| pTau205 (ng ml−1) | 151 (66) | 0.002 | 0.001 | 230 (65) | 0.005 | 0.006 | 2.58 × 10−12 |
| pTau217 (ng ml−1) | 152 (66) | 0.004 | 0.004 | 230 (65) | 0.03 | 0.04 | 9.90 × 10−15 |
| t-Tau (ng ml−1) | 152 (66) | 0.41 | 0.14 | 230 (65) | 0.60 | 0.32 | 1.63 × 10−11 |
| NEFL (pg ml−1) | 192 (83) | 250.5 | 148.1 | 304 (86) | 510.0 | 529.3 | 8.92 × 10−11 |
| PGRN (pg ml−1) | 161 (70) | 745.1 | 248.5 | 250 (70) | 816.5 | 266.8 | 0.007 |
| c-sTREM2 (pg ml−1) | 151 (66) | 3.3 | 1.34 | 242 (68) | 4.0 | 1.6 | 5.73 × 10−5 |
| FDG-PET (SUVR) | 163 (71) | 1.92 | 0.16 | 246 (69) | 1.84 | 0.23 | 8.33 × 10−5 |
| PIB-PET (SUVR) | 165 (72) | 1.06 | 0.17 | 238 (67) | 1.95 | 1.08 | 2.98 × 10−23 |
| MRI (mm3) | 173 (75) | 4.75 | 0.27 | 260 (73) | 4.58 | 0.44 | 5.35 × 10−6 |
| Cognitive composite | 229 (99) | 0.24 | 0.47 | 337 (95) | −0.16 | 0.95 | 5.54 × 10−9 |
aCalculated at the sample level at time of assessment.
Data were from DIAN data freeze 15. Additional trait data are available in Supplementary Table 1. Differences were assessed by two-sided t-test without correction for multiple comparisons. pTau202, tau phosphorylated at residue 202; SUVR, standardized uptake value ratio.