Table 1. Demographic and clinical characteristics of study population.
Shown are numbers (and percentages) of samples that passed quality control.
| Project MinE | External | |||
|---|---|---|---|---|
| MinE 450 k | MinE EPIC | AUS1* | AUS2* | |
| (N = 4474) | (N = 3897) | (N = 1088) | (N = 247) | |
| Diagnosis | ||||
| Control | 1436 (32%) | 915 (23%) | 493 (45%) | 99 (40%) |
| Case | 3038 (68%) | 2982 (77%) | 595 (55%) | 148 (60%) |
| Sex at birth | ||||
| Female | 1863 (42%) | 1700 (44%) | 487 (45%) | 124 (50%) |
| Male | 2611 (58%) | 2197 (56%) | 601 (55%) | 123 (50%) |
| Age (years) | ||||
| Mean (SD) | 63 (± 11) | 61 (± 13) | 70 (± 12) | |
| Missing | 438 (9.8%) | 949 (24.4%) | 77 (7.1%) | |
| Site of onset † | ||||
| Bulbar | 861 (28%) | 739 (25%) | 173 (29%) | 36 (24%) |
| Generalized | 98 (3%) | 112 (4%) | 0 (0%) | 0 (0%) |
| Spinal | 2023 (67%) | 2060 (69%) | 0 (0%) | 0 (0%) |
| Thoracic | 10 (0%) | 5 (0%) | 0 (0%) | 0 (0%) |
| Missing | 46 (1.5%) | 66 (2.2%) | 422 (70.9%) | 112 (75.7%) |
| Survival status † | ||||
| Alive | 437 (14%) | 1112 (37%) | 516 (87%) | 43 (29%) |
| Dead | 2564 (84%) | 1845 (62%) | 79 (13%) | 87 (59%) |
| Missing | 37 (1.2%) | 25 (0.8%) | 0 (0%) | 18 (12.2%) |
| Survival (months) † | ||||
| Median (Q1-Q3) | 31.4 (31.4–48.9) | 31.3 (21.1–47.1) | 31.5 (23.6–44.4) | 38.3 (25.4–66.5) |
| Missing | 17 (0.7%) | 9 (0.5%) | 2 (2.5%) | 1 (1.1%) |
| C9orf72 status † ‡ | ||||
| Expanded (≥30) | 200 (7%) | 155 (5%) | ||
| Normal | 2809 (92%) | 2780 (93%) | ||
| Missing | 29 (1.0%) | 47 (1.6%) | ||
*
Data only included in case/control analyses.
†
Case only.
‡
Dead only.