Table 1.
TREM2 p.R47H carriers in published cohorts and this study
| Cohort | No. Subjects | p.R47H carriers | MAF (%) | |
|---|---|---|---|---|
| Controls | ESP-EA17 | 4,300 | 22 | 0.26 |
| Spain12 | 550 | 0 | 0.00 | |
| Georgia, USA9 | 402 | 1 | 0.12 | |
| Germany9 | 1,891 | 7 | 0.19 | |
| Netherlands9 | 4,950 | 15 | 0.15 | |
| Norway9 | 2,484 | 8 | 0.16 | |
| N. America/UK11 | 5,166 | 20 | 0.19 | |
| Utah, USA13 | 2,540 | 12 | 0.24 | |
| France10 | 783 | 4 | 0.26 | |
| N. America/Ireland/Poland14 | 1,957 | 8 | 0.20 | |
| This Study (N. America) | 1,848 | 3 | 0.08 | |
| Total Controls | 26,871 | 100 | 0.19 | |
| ALS | This Study (N. America) | 920 | 10 | 0.54 |
| N. America14 | 765 | 5 | 0.33 | |
| Total ALS Subjects | 1685 | 15 | 0.45 | |
Abbreviations: MAF= minor allele frequency; ESP-EA= Exome Sequencing Project European American; N. America=North American