Table 1.
Clinical details of the cohort utilised for the ELISA assays
| Cohort (location) | Preliminary (discovery cohort) Australian (Brisbane-based) |
Independent replication cohort Australian (Australia-wide*) |
||
|---|---|---|---|---|
| Sample | ALS cases | Controls | ALS cases | Controls |
| Number | 50 | 50 | 200 | 28 |
| Age (yrs, ± 95% CI) | 61 ± 2.3 | 60 ± 1.9 | 62.7 ± 1.6 | 52.9 ± 5.4 |
| Sex (F/M) | 13/37 | 18/32 | 59/141 | 15/12 |
| BMI | 25.7 ± 1.0 | 26.8 ± 1.2 | NA | NA |
| Smoker (ever) |
Yes = 20 No = 30 NA = 0 |
NA |
Yes = 15 No = 79 NA = 106 |
NA |
| ALSFRS-R | 38 ± 1.2 | NA | 32.9 ± 1.2 | NA |
| Age at onset | 59.0 ± 2.4 | NA | 60.3 ± 1.8 | NA |
| Age at diagnosis | 60.7 ± 2.5 | NA | 61.5 ± 1.9 | NA |
| ALS onset site |
B = 11 (22%) UL = 13 (26%) LL = 21 (42%) Other = 5 (10%) |
NA |
B = 44 (26%) UL = 51 (30%) LL = 70 (41%) Other = 6 (4%) NA = 29 |
NA |
| ALS type |
Classic = 30 UMN = 8 LMN = 8 Other = 4 |
NA |
Classic = 97 UMN = 8 LMN = 13 Other = 81 |
NA |
| Family history | 0 | NA | 22 (11%) | NA |
| FVC (seated) | 3.6 ± 0.3 | NA | NA | NA |
| NIV | 3 | NA | NA | NA |
| PEG | 5 | NA | NA | NA |
| Riluzole | 25/50 | NA | NA | NA |
|
rs10463311 Genotype n (%) |
TT = 23 (50%) TC = 17 (37%) CC = 6 (13%) NA = 4 |
TT = 26 (59%) TC = 15 (34%) CC = 3 (7%) NA = 6 |
TT = 114 (62%) TC = 59 (32%) CC = 11 (6%) NA = 16 |
TT = 12 (44%) TC = 14 (52%) CC = 1 (4%) NA = 1 |
| Months between onset and assessment | 22.4 ± 5.1 | NA | 33.5 ± 4.5 | NA |
| Months between diagnosis and assessment | 9.3 ± 3.1 | NA | 22.92 ± 5.9 | NA |
| Comorbidity | 32/50 | 30/50 | NA | NA |
| GPX3 level (ng/ml) | 1742.2 ± 350.3 | 1908.0 ± 315.0 | 4907.8 ± 225.1 | 5368.4 ± 599.9 |
| TNIP1 level | Not detectable | Not detectable | NA | NA |
| Days between blood collection and plasma extraction | 0 ± 0 | 0 ± 0 | 1.7 ± 0.1 | 0.9 ± 0.3 |
| Visit to the clinic which the sample was collected | NA | NA | 1.35 ± 0.1 | NA |
| Rate of progressionκ | NA | NA | 0.71 ± 0.09 | NA |
F female, M male, BMI body mass index, ALSFRS-R Amyotrophic Lateral Sclerosis Functional Rating Score – Revised (range 0–48 (48 = no physical disability)), FVC forced vital capacity, NIV non-invasive ventilation, PEG percutaneous endoscopic gastrostomy. *Samples were collected from four clinics, κ = change in ALSFRS per month since onset ((48-ALFRS at visit)/(months between onset and visit date)) (n = 128, Additional file 2), ±error indicates 95% confidence interval