Table 4.
Associations of mosaicism with Alzheimer's Disease blood-based biomarkers for each of the cohorts.
| Biomarkera | ABC-DS (N = 309) |
Legacy (N = 265) |
Meta-analysis |
||||
|---|---|---|---|---|---|---|---|
| Full trisomy (N = 286) | Mosaic (N = 23) | β(p) | Full trisomy (N = 241) | Mosaic (N = 24) | β(p) | β(p) | |
| Aβ40 | |||||||
| Mean (SD) | 450.5 (93) | 412 (98.3) | −51.6 (0.013) | 332.7 (101.7) | 295 (126.2) | −31.21 (0.16) | −42.19 (0.011) |
| Range | 60.9–759 | 187–617 | 28.8–703 | 94.9–640 | |||
| Aβ42 | |||||||
| Mean (SD) | 15.3 (3) | 14.3 (3.3) | −1.44 (0.027) | 14.6 (5) | 13.3 (5.5) | −1.13 (0.30) | −1.30 (0.038) |
| Range | 2.2–24.5 | 6.7–21.3 | 1.1–30.2 | 5.3–24.9 | |||
| Tau | |||||||
| Mean (SD) | 2.7 (1.9) | 2.7 (1.8) | −0.04 (0.39) | 3.3 (7.4) | 3 (1.2) | 0.08 (0.086) | 0.02 (0.13) |
| Range | 0.13–18.4 | 0.18–9.8 | 0.6–115 | 1–6.2 | |||
| NfL | |||||||
| Mean (SD) | 21.4 (20.1) | 26.4 (24.8) | −0.031 (0.51) | 34.9 (31.6) | 43.1 (27.7) | 0.06 (0.26) | 0.01 (0.34) |
| Range | 4.1–233 | 6.6–122 | 4.9–267 | 12.5–134 | |||
Only participants with data for the biomarkers were included. Models were adjusted for sex assigned at birth, age, dementia status, and level of premorbid intellectual disability. Tau and NfL linear models were calculated after log10 transformation of the biomarker data.
a
Pg/mL.