Frequency of PFNI E117G variant
| Population | ALS | E117G | FTD | E117G | TOTAL cases | E117G | CONTROL | E117G | p Value | OR (one-tailed 95% CI) | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Original discovery set (after exclusion of African samples in NHLBI dataset, and removal of 1000 genomes cohort) | |||||||||||
| North American* | 1090 | 3 | 1090 | 3 | 1089 | 1 | 4 | ||||
| European American | 4300 | 3 | NHLBI exome sequencing project | ||||||||
| Total | 1090 | 3 | 5389 | 4 | 0.098 | 3.71 | |||||
| Validation datasets | |||||||||||
| UK* | 383 | 2 | 383 | 2 | 4732 | 8 | UK10K (http://www.uk10k.org) | ||||
| US/Nordic/German* | 672 | 1 | 16 | 0 | 688 | 1 | 972 | 0 | 7 | ||
| French | 46 | 0 | 119 | 0 | 165 | 0 | 8 | ||||
| Italian* | 1168 | 1 | 203 | 0 | 1371 | 1 | 1132 | 0 | 9 | ||
| Canadian | 94 | 0 | 94 | 0 | 5 | ||||||
| Australian | 825 | 3 | 825 | 3 | 11 | ||||||
| Belgian* | 174 | 0 | 328 | 3 | 502 | 3 | 864 | 3 | 6 | ||
| Combined analysis | |||||||||||
| Total (all samples, not stratified) | 4452 | 10 | 666 | 3 | 5118 | 13 | 13 089 | 15 | 0.036 | 2.22 (1.1 to ∞) | |
| Total* (stratified Mantel–Haenszel test) | 4024 | 10 | 8777 | 12 | 0.038 | 2.44 (1.048 to ∞) | |||||
*Indicates case-control datasets used for the Mantel–Haenszel test.
ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia.