Table III.
Permutation‐Based Enrichment Analysis for GWAS Top‐Associated Genetic Loci
| GWAS dataset | Permuted datasets | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Outcome | Nobs | Nexc/Nperm | P emp | 50th PCTL | Nobs‐50th PCTL | 5th PCTL | Nobs‐5th PCTL | ||
| IQ | 391 | 11/1000 | 0.011 | 343 | 48 | 378 | 13 | ||
| CPT | 338 | 60/100 | ns | 342 | ‐ | 375 | ‐ | ||
| CPT‐RT | 349 | 36/100 | ns | 340 | 9 | 375 | ‐ | ||
| VNB | 418 | 0/3000 | <0.001 | 344 | 74 | 379 | 39 | ||
| VNB‐RT | 323 | 84/100 | ns | 347 | ‐ | 378 | ‐ | ||
| SNB | 370 | 7/100 | ns | 343 | 27 | 373 | ‐ | ||
| SNB‐RT | 354 | 33/100 | ns | 345 | 10 | 383 | ‐ | ||
| ERT | 357 | 25/100 | ns | 343 | 14 | 382 | ‐ | ||
| ART | 381 | 35/1000 | 0.035 | 345 | 36 | 378 | 3 | ||
| ACV | 448 | 0/3000 | <0.001 | 352 | 96 | 387 | 61 | ||
| SPEM | 335 | 67/100 | ns | 345 | ‐ | 382 | ‐ | ||
Nobs, number of observed loci at GWAS P < 0.001.
Nexc, number of permutation where the number of loci at P < 0.001 exceeded Nobs.
Nperm, number of permutations performed.
P emp, empirical P‐value. Significant enrichment at P <0.05 is shown in bold.
PCTL, percentile, for example 5th PCTL is the number of loci with P < 0.001 in 5% of permutations.ns, not significant (P emp > 0.05).