Table 2.
Enrichment of patients with epilepsy in the extreme tails of the PRS distribution
| Reference group | OR | 95% CI | P-value | Cases/controls upper PRS% | Cases/controls lower PRS% | Sensitivity | Specificity | |
|---|---|---|---|---|---|---|---|---|
| GE–PRS / GE-Epi25 | ||||||||
| Top 20% of distribution | Remaining 80% | 2.04 | 1.86–2.25 | 4.61 × 10−48 | 887/3652 | 1369/16 783 | 0.393 | 0.821 |
| Top 5% of distribution | Remaining 95% | 2.39 | 2.06–2.76 | 4.39 × 10−32 | 305/830 | 1951/19 605 | 0.135 | 0.959 |
| Top 0.5% of distribution | Remaining 99.5% | 4.63 | 3.16–6.76 | 2.60 × 10−15 | 54/60 | 2202/20 375 | 0.024 | 0.997 |
| GE–PRS / GE-Cleveland | ||||||||
| Top 20% of distribution | Remaining 80% | 2.09 | 1.33–3.28 | 1.31 × 10−3 | 35/4070 | 50/16 365 | 0.412 | 0.801 |
| Top 5% of distribution | Remaining 95% | 2.02 | 1.00–3.72 | 3.44 × 10−2 | 11/1016 | 74/19 419 | 0.129 | 0.950 |
| Top 0.5% of distribution | Remaining 99.5% | 4.47 | 1.07–12.6 | 1.39 × 10−2 | 3/100 | 82/20 335 | 0.035 | 0.995 |
| FE–PRS / FE-Epi25 | ||||||||
| Top 20% of distribution | Remaining 80% | 1.35 | 1.24–1.48 | 2.32 × 10−11 | 992/3785 | 2457/16 650 | 0.288 | 0.815 |
| Top 5% of distribution | Remaining 95% | 1.44 | 1.25–1.66 | 7.74 × 10−7 | 292/903 | 3157/19 532 | 0.085 | 0.956 |
| Top 0.5% of distribution | Remaining 99.5% | 2.00 | 1.34–2.95 | 5.57 × 10−4 | 40/80 | 3409/20 355 | 0.012 | 0.996 |
| FE–PRS / FE-Cleveland | ||||||||
| Top 20% of distribution | Remaining 80% | 1.49 | 1.22–1.82 | 1.04 × 10−4 | 148/4047 | 387/16 388 | 0.277 | 0.802 |
| Top 5% of distribution | Remaining 95% | 1.55 | 1.09–2.14 | 1.17 × 10−2 | 40/1009 | 495/19 426 | 0.075 | 0.951 |
| Top 0.5% of distribution | Remaining 99.5% | 1.83 | 0.62–4.32 | 0.22 | 5/100 | 530/20 335 | 0.009 | 0.995 |
Odds ratios (OR) and P-values were calculated by comparing those within the top 0.5, 5, and 20% of the PRS distribution, to the remainder of the PRS distribution in a logistic regression model adjusted for sex and the first four principal components of ancestry. The threshold for statistical significance after Bonferroni correction was set to α = 1.67 x 10−2 (three tests per cohort). CI = confidence interval; EUR = European.