Table 1.
Data demographics
| Genetic variants conditions traits | Status | n total/n clin | Age | Sex (F/M) | Cohorts | IQ loss | OR ASD | OR SZ |
|---|---|---|---|---|---|---|---|---|
| Previously published | ||||||||
|
1q21.1
1: 146.53–147.39 7 genes (CHD1L) |
DEL | 25/15 | 44.4 (19) | 12/13 | UKBB-MRG- Cardiff- SFARI |
15 | 3.2 | 6.4 |
| DUP | 19/6 | 50.9 (19) | 13/6 | 25 | 5.3 | 2.9 | ||
|
22q11.2
22: 19.04–21.47 49 genes (TBX1) |
DEL | 43/43 | 16.9 (7) | 19/24 | UCLA | 28.8 | 32.3 | 23 |
| DUP | 22/12 | 39.4 (23) | 12/10 | UCLA-UKBB Cardiff-MRG |
8.3 | 2 | 0.2 | |
|
16p11.2
16: 29.65–30.20 27 genes (KCTD13) |
DEL | 32/28 | 21.7 (20) | 13/19 | SFARI - MRG -UKBB |
26 | 14.3 | 1.1 |
| DUP | 35/29 | 34.1 (19) | 14/21 | 11 | 10.5 | 11.7 | ||
|
15q11.2
15: 22.81–23.09 4 genes (CYFIP1) |
DEL | 103/0 | 64.3 (7) | 55/48 | UKBB | 3 | 1.3 | 1.9 |
| Idiopathic psychiatric conditions | SZ | 283 | 33.9 (9.2) | 73/210 | Montreal-SZ, CNP | - | - | - |
| BIP | 44 | 35 (9) | 20/24 | CNP | - | - | - | |
| ASD | 472 | 14.9 (6) | 0/472 | ABIDE1, ABIDE2 | - | - | - | |
| ADHD | 223 | 14.8 (9.5) | 66/157 | ADHD-200 CNP | - | - | - | |
| Non-psychiatric condition | IBD | 287 | 64.7(7.5) | 144/143 | UKBB | |||
| Polygenic scores | ASD | 29 460 | 64.2 (7.5) | 15 840/13 620 | UKBB | - | 2.7 | - |
| SZ | - | - | 3.5 | |||||
| BIP | - | - | - | |||||
| MDD | ||||||||
| Cross-D | - | - | - | |||||
| Traits | FI | 27 522 | 64 (7.5) | 14 777/12 745 | - | - | - | |
| NT | 24 025 | 64 (7.5) | 12 723/11 302 | - | - | - | ||
| Controls | UKBB | 30 185 | 64.1 (7.5) | 16 260/13 925 | UKBB | - | - | - |
| SFARI | 84 | 26.7 (15) | 35/49 | SFARI | - | - | - | |
| MRG | 39 | 34 (16) | 25/14 | MRG | - | - | - | |
| Cardiff | 8 | 39.8 (4) | 4/4 | Cardiff | ||||
| UCLA | 43 | 13 (4.6) | 22/21 | UCLA | - | - | - | |
| Psychiatric cohorts | 1066 | 20 (11) | 244/822 | - | - | - | - | |
CNV carriers, individuals with idiopathic psychiatric conditions and controls after MRI quality control. Chr = chromosome number, and coordinates are presented in Megabases (Mb, Hg19). The number of genes encompassed in each CNV is detailed below the genomic coordinates, followed by a well-known gene to help identify the CNV. n = total/clin: total number of participants/number of participants clinically ascertained. Age (in years, mean ± standard deviation). All sites scanned controls and sensitivity analyses were performed to investigate the potential bias introduced by differences in scanning site, age and sex. IQ loss = mean decrease in IQ points associated with each CNV.27,62 Odd-ratios (OR) for the enrichment of CNVs in ASD and SZ were previously published.62–71 ORs for the enrichment of CNVs in ADHD were not available. Detailed information relative to diagnosis, IQ, and motion, are available in Supplementary Tables 2–4. DEL = deletion; DUP = duplication; F = female; M = male; MDD = major depression disorder; CrossD = cross-disorder; CNP = Consortium for Neuropsychiatric Phenomics; IQ = intelligence quotient.