Table 1.
Significant CNV loci in patients with AOS and COS.
| Chr | Locus | Mechanism | CNV | Effect | OR (95% CI) | COS |
|---|---|---|---|---|---|---|
| 1 | 1q21.1 | NAHR | Loss + gain | Risk | 3.8 (2.1–6.9) | |
| 2 | 2p16.3 (NRXN1) | NHEJ | Loss | Risk | 14.4 (4.2–46.9) | + |
| 3 | 3q29 | NAHR | Loss | Risk | Infinite | + |
| 7 | 7p36.3 | NAHR | Loss + gain | Risk | 3.5 (1.3–9.0) | |
| 7 | 7q11.21 | NAHR | Loss + gain | Protective | 0.66 (0.52–0.84) | |
| 7 | 7q11.23 | NAHR | Gain | Risk | 16.1 (3.1–125.7) | |
| 8 | 8q22.2 | NHEJ | Loss | Risk | 14.5 (1.7–122.1) | |
| 9 | 9p24.3 | NHEJ | Loss + gain | Risk | 12.4 (1.6–98.1) | |
| 13 | 13q12.11 | NAHR | Gain | Protective | 0.36 (0.19–0.67) | |
| 15 | 15q11.2 | NAHR | Loss | Risk | 1.8 (1.2–2.6) | + |
| 15 | 15q13.3 | NAHR | Loss | Risk | 15.6 (3.7–66.5) | + |
| 16 | 16p11.2. proximal | NAHR | Gain | Risk | 9.4 (4.2–20.9) | |
| 16 | 16p11.2. distal | NAHR | Loss | Risk | 20.6 (2.6–162.2) | + |
| 22 | 22q11.21 | NAHR | Loss | Risk | 67.7 (9.3–492.8) | + |
| 22 | 22q11.21 | NAHR | Gain | Protective | 0.15 (0.04–0.52) | |
| X | Xq28 | NAHR | Gain | Protective | 0.35 (0.18–0.68) | |
| X | Xq28. distal | NAHR | Gain | Risk | 8.9 (2.0–39.9) |
Abbreviations are: AOS, adult-onset schizophrenia; Chr, chromosome; CI, confidence interval; COS, childhood-onset schizophrenia; CNV, copy number variation; NAHR, non-allelic homologous recombination; NHEJ, non-homologous end joining; OR, odds ratio; +, present. Adapted by Springer Nature (https://www.nature.com/nature/), Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects, Christian R. Marshall, 2017 [49].