Table 1.
Demographics: CNVs
| CNV (hg19) | Number of Genes / Well-Known Gene | Status | Ascertainment, n | Age, Years, Mean (SD) | Sex, F/M, n | Cohorts | Previously Published | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Clinical | Unselected | IQ Loss | OR ASD | OR SZ | ||||||
| Psychiatric CNVs | ||||||||||
| 1q21.1 1: 146.53–147.39 |
7 / CHD1L | DEL | 15 | 10 | 44.4 (19) | 12/13 | UKBB, MRG, Cardiff, SFARI | 15 | 3.2 | 6.4 |
| DUP | 6 | 13 | 50.9 (19) | 13/6 | 25 | 5.3 | 2.9 | |||
| 22q11.2 22: 19.04–21.47 |
49 / TBX1 | DEL | 43 | 0 | 16.9 (7) | 19/24 | UCLA | 28.8 | 32.3 | 23 |
| DUP | 12 | 10 | 39.4 (23) | 12/10 | UCLA, UKBB, Cardiff, MRG | 8.3 | 2 | 0.2 | ||
| 16p11.2 16: 29.65–30.20 |
27 / KCTD13 | DEL | 28 | 4 | 21.7 (20) | 13/19 | SFARI, MRG, UKBB | 26 | 14.3 | 1.1 |
| DUP | 29 | 6 | 34.1 (19) | 14/21 | 11 | 10.5 | 11.7 | |||
| 15q11.2 15: 22.81–23.09 |
4 / CYFIP1 | DEL | 0 | 103 | 64.3 (7) | 55/48 | UKBB | 3 | 1.3 | 1.9 |
| Nonpsychiatric CNVs | ||||||||||
| 15q11.2 15: 22.81–23.09 |
4 / CYFIP1 | DUP | 0 | 136 | 63.7 (7) | 76/60 | UKBB | 0.9 | 1 | 1 |
| 15q13.3 15: 31.08–32.46 |
5 / CHRNA7 | DUP | 0 | 190 | 64.4 (7) | 100/90 | 0.9 | 0.7 | 1.24 | |
| 2q13 2: 110.86–110.98 |
3 / NPHP1 | DEL | 0 | 183 | 63.1 (7) | 110/73 | – | 1 | – | |
| DUP | 0 | 88 | 64.7 (8) | 43/45 | – | 1 | – | |||
| 16p13.11 16: 15.51–16.29 |
6 / MYH11 | DUP | 0 | 40 | 64.7 (6) | 21/19 | 2 | 1 | 1.5 | |
| 13q12.12 13: 23.56–24.88 |
5 / SPATA13 | DEL | 0 | 22 | 63.5 (6) | 12/9 | 2.1 | – | – | |
| DUP | 0 | 20 | 60.8 (7) | 10/10 | 0.6 | – | – | |||
| TAR 1: 145.39–147.39 |
15 / RBM8 | DUP | 0 | 29 | 59.8 (7) | 14/15 | 2.4 | – | 1 | |
The cohort column provides the cohorts used to perform case-control studies for each of the 29 CWASs. IQ loss indicates mean decrease in IQ points associated with each CNV (7,8). ORs for the enrichment of CNVs in autism and schizophrenia were previously published (4,5,9,11,26,27,52,65–70). ORs for the enrichment of CNVs in ADHD were not available. The nonpsychiatric CNVs were defined as variants without any previous association with psychiatric conditions in large case-control studies (4,26–28); and detailed information relative to diagnosis, IQ, and motion are available in the Supplement. Information relative to scanning sites, motion, and diagnoses are also available in eTables 2–4 in the Supplement. All sites scanned control subjects. The table shows the numbers of CNV carriers (DEL, DUP), individuals with idiopathic psychiatric conditions (SZ, ASD, ADHD, BIP), and control subjects after MRI quality control. Chromosome number and coordinates are presented in megabases (Hg19).
ADHD, attention-deficit/hyperactivity disorder; ASD, autism spectrum disorder; BIP, bipolar disorder; Chr, chromosome; CNV, copy number variant; CWAS, connectome-wide association study; DEL, deletion; DUP, duplication; F, female; M, male; MRG, Montreal rare genomic disorder; MRI, magnetic resonance imaging; OR, odds ratio; SFARI, Simons Foundation Autism Research Initiative; SZ, schizophrenia; UCLA, University of California, Los Angeles; UKBB, UK Biobank.