Table 1.
The main replicated risk variants identified for schizophrenia with their locations and effect sizes
| Confirmed common risk variants for schizophrenia | ||||||
|---|---|---|---|---|---|---|
| Chomosome | Variant | P-value | Odds Ratio | 95% CI | Gene | Reference |
| 1p21.3 | rs1625579 | 1.5 × 10-11 | 1.12 | 1.09-1.16 | MIR 137 | [8] |
| 2p15.1 | rs2312147 | 1.9 × 10-9 | 1.09 | VRK2 | [13] | |
| 2q32.1 | rs1344706 | 2.5 × 10-11 | 1.1 | 1.07-1.14 | ZNF804A | [9] |
| 2q32.3 | rs17662626 | 4.65 × 10-8 | 1.2 | 1.13-1.26 | [8] | |
| 6p21.3-p22.1* | rs2021722 | 2.18 × 10-12 | 1.15 | 1.11-1.19 | HLA region | [8,10-12] |
| 8p23.2 | rs10503253 | 1.45 × 10-8 | 1.16 | 1.11-1.21 | CSMD1 | [8] |
| 8q21.3 | rs7004633 | 2.75 × 10-8 | 1.1 | 1.07-1.14 | [8] | |
| 10q24.32* | rs7914558 | 2.23 × 10-8 | 1.22 | 1.15-1.29 | CNNM2 | [8] |
| 11q24.2 | rs12807809 | 2.8 × 10-9 | 1.16 | 1.09-1.24 | NRGN | [8,11] |
| 18q21.2* | rs12966547 | 2.35 × 10-8 | 1.4 | 1.28-1.52 | TCF4 | [8,10-12] |
| Confirmed rare variant risks for schizophrenia | ||||||
| Chomosome CNV type | Position (Mb) | P-value | Odds Ratio | 95% CI | Gene | Reference |
| 1q21.1 del | 143.8-146.6 | 2.2 × 10-8 | 8.3 | 3.7-19.9 | [21-23] | |
| 1q21.1 dup | 143.8-146.6 | 2 × 10-3 | 3.7 | 1.5-8.7 | [23] | |
| 2p16.3 del | 50.7-51.3 | 5.5 × 10-9 | 8.2 | 3.8-19.4 | NRXN1 | [23,25] |
| 3q29 del | 197.2-198.83 | 4 × 10-4 | 2.9 | [23,24] | ||
| 7q36.3 dup | 158.7-158.81 | 8.3 × 10-5 | 16.4 | 3.11, infinity | VIPR2 | [23,24] |
| 15q11.2 del | 20.3-20.8 | 6 × 10-4 | 2.73 | 1.5-4.89 | [22] | |
| 15q13.3 del | 28.2-30.6 | 2 × 10-9 | 9.9 | 4.3-24.4 | [21-23] | |
| 16 dup | 9.09-9.12 | 1 × 10-4 | 12.9 | 2.8-121.4 | C16orf72 | [23] |
| 16p11.2 dup | 15.0-18.0 | 1.5 × 10-12 | 11.6 | 5.6-29.3 | [23] | |
| 16p13.1 dup | 29.5-30.2 | 7 × 10-3 | 3.27 | 1.29-7.94 | [26] | |
| 17p12 del | 14.0-15.4 | 5 × 10-5 | 10 | not presented | [27] | |
| 22q11 del | 17.1-19.9 | < 1.0 × 10-16 | 44 | 35.9-infinity | [23] | |
The Odds Ratio (OR) is a measure of effect size. It is the ratio of the odds of the variant occuring in the group of people with disease versus the ratio in the control group.
The 95% confidence interval (CI) gives the range within which the true OR lies with a 95% probability.
CNV denotes a copy number variant, which may either be a deletion (del) or duplication (dup).
An asterisk indicates that more than one variant has been implicated at this locus. Details for rare variants are provided where only one gene is implicated; typically, the other CNVs implicate 10 to 20 or more genes.