Table 2.
Genome-wide burden analysis results based on 89,512 quality-control filtered, protein-changing, and rare variants.
| SUDEP patients |
Epilepsy controls |
Disease controls |
Wilcoxon rank-sum test P-valuesa |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (n = 18) |
(n = 87) |
(n = 1479) |
||||||||||
| M | Mdn | IQR (Q1–Q3) | M | Mdn | IQR (Q1–Q3) | M | Mdn | IQR (Q1–Q3) | SUDEP vs. epilepsy controls |
SUDEP vs. disease controls |
Epilepsy controls vs. disease controls |
|
| Test groups | 18 vs. 87 | 18 vs. 1479 | 87 vs. 1479 | |||||||||
| Per-individual burden scores | 309.2 | 313.3 | 54.3 (284–338) |
282.7 | 276.3 | 47.2 (257–304) |
270.3 | 268.4 | 73.5 (233–306) |
5.7 × 10− 3 | 1.2 × 10− 3 | 0.023 |
| N. of variants per individual | 110.2 | 108.5 | 18 (102–120) |
104.1 | 101 | 18 (96–114) |
99.29 | 98 | 24 (86–110) |
0.022 | 4.1 × 10− 3 | 6.1 × 10− 3 |
| Post hoc analysis excluding SCN1A variantsb | ||||||||||||
| Per-individual burden scores | 308.2 | 312.6 | 54.3 (284–338) |
282.2 | 276.3 | 46.5 (256–303) |
270.3 | 268.4 | 73.5 (233–306) |
6.3 × 10− 3 | 1.4 × 10− 3 | 0.028 |
Threshold for statistical significance after Bonferroni correction was set to α = 8.3 × 10− 3. Abbreviations: SUDEP, sudden unexpected death in epilepsy; M, mean; Mdn, median; IQR, interquartile range; Q1, lower (first) quartile; Q3, upper (third) quartile; N., number.
a
All P-values are two-tailed.
b
Post hoc analysis excluding 31 SCN1A variants present in any of the testing groups.