Table 1.
Cohort descriptives following sample and genetic-level quality control.
| Ascertainment | Cohort | N | N with cognitive data (%) | Females, n (%) | Age in years, mean (SD) | Z-scored intelligence measure, mean (SD) | Type of intelligence measures |
|---|---|---|---|---|---|---|---|
|
| |||||||
| Cases with ASD | SSC | 1526 | 1517 (99.41%) | 199 (13.04%) | 9.28 (3.63) | −0.9 (1.76) | WISC-IV; DAS-II E-Y; DAS-II S-A; Mullen; WASI-I |
| SPARK | 18230 | 6289 (34.5%) | 4391 (24.09%) | 13.22 (10.11) | −0.54 (1.94) | WISC; Stanford-Binet Intelligence Test; Mullen; Bayley-II; DAS-II | |
| MSSNG | 1499 | 620 (41.36%) | 342 (22.82%) | 9.59 (4.59) | −0.33 (1.63) | WISC-IV; WASI-II; Leiter; Raven; Stanford Binet; WPPSI | |
| Total | 21255 | 8426 (39.64%) | 4932 (23.2%) | 12.83 (9.74) | −0.59 (1.89) | ||
|
| |||||||
|
Unaffected family members
Intrafamilial controls |
SSC | 4798 | - | 2441 (50.88%) | 32.27 (15.46) | - | |
| SPARK | 17835 | - | 10438 (58.53%) | 37.21 (14.05) | - | ||
| MSSNG | 1841 | - | 915 (49.7%) | 41.25 (12.29) | - | ||
| Total | 24474 | - | 13794 (56.36%) | 36.26 (14.47) | - | ||
|
| |||||||
|
Unselected general population controls
Extrafamilial controls |
IMAGEN | 1532 | 1492 (97.39%) | 778 (50.78%) | 14.45 (0.36) | 0.48 (0.96) | WISC-IV (and g-factor, similarities score, vocabulary score, block design score, matrix reasoning score) |
| GS | 13853 | 13450 (97.09%) | 8157 (58.88%) | 46.88 (15.1) | 0.05 (0.97) | g-factor, logical memory, digit symbol, verbal fluency, Mill Hill Vocabulary | |
| LBC | 506 | 460 (90.91%) | 248 (49.01%) | 70 (0) | 0.03 (0.98) | Moray House Test (and g-factor) | |
| SYS | 1843 | 1547 (83.94%) | 945 (51.28%) | 28.14 (17.1) | 0.17 (0.91) | WISC-III (and g-factor using 63 cognitive measures), g-factor, 12 cognitive measures | |
| UKBB | 294077 | 152855 (51.98%) | 161559 (54.94%) | 59.33 (8.51) | 0.1 (0.96) | g-factor computed using four cognitive tasks and fluid intelligence | |
| Total | 311811 | 169804 (54.46%) | 171687 (55.06%) | 57.25 (11.63) | 0.1 (0.96) | ||
Following quality control, this study uses the genetic data of 357,540 individuals across eight cohorts. These samples include 21,255 individuals diagnosed with ASD, 24,474 unaffected family members from simplex and multiplex families with ASD and 311,811 unselected individuals from community-based general population cohorts. To avoid base and target sample overlap for PRS computation, we only included the UKBB participants from the second data release. Only the subset of individuals with available cognitive data was included in analyses where cognitive ability was included in the regression models.