Table 1

Frequency of PFNI E117G variant

PopulationALSE117GFTDE117GTOTAL casesE117GCONTROLE117Gp ValueOR (one-tailed 95% CI)Reference
Original discovery set (after exclusion of African samples in NHLBI dataset, and removal of 1000 genomes cohort)
 North American*1090310903108914
 European American43003NHLBI exome sequencing project
 Total10903538940.0983.71
Validation datasets
 UK*3832383247328UK10K (http://www.uk10k.org)
 US/Nordic/German*6721160688197207
 French460119016508
 Italian*11681203013711113209
 Canadian9409405
 Australian8253825311
 Belgian*17403283502386436
Combined analysis
 Total (all samples, not stratified)445210666351181313 089150.0362.22 (1.1 to ∞)
 Total* (stratified Mantel–Haenszel test)4024108777120.0382.44 (1.048 to ∞)
  • *Indicates case-control datasets used for the Mantel–Haenszel test.

  • ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia.