Table 1. Association of ID CNV Loci With Schizophreniaa.
| CNVs |
% |
P Value |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| CNV | Critical/Unique Sequence Region, hg19, Mb | Controls | SZ | Controls Rate | SZ Rate | Rate in ID/ASD | Rate in General Population | Relative Risk SZ | CMH OR (95% CI) | CMH | Bonferroni Correctedb |
| 16p12.1 del | chr16:21.95-22.43 | 12 | 33 | 0.05 | 0.16 | 0.124 | 0.047 | 3.4 | 3.3 (1.61-7.05) | .00034 | .017 |
| 10q11.21q11.23 dup | chr10:49.39-51.06 | 0 | 5 | 0 | 0.025 | 0.024 | 6.0 × 10–4 | 40.7 | Inf (1.26-Inf) | .014 | .71 |
| 2q11.2 del | chr2:96.74-97.68 | 1 | 6 | 0.004 | 0.029 | 0.018 | 0.0042 | 7 | 9.3 (1.03-447.76) | .037 | >.99 |
| TAR dup | chr1:145.39-145.81 | 16 | 23 | 0.06 | 0.113 | 0.155 | 0.062 | 1.8 | 1.9 (0.93-3.93) | .066 | >.99 |
| Potocki-Lupski syndrome dup | chr17:16.81-20.21 | 0 | 2 | 0 | 0.01 | 0.055 | 0.0012 | 8.5 | Inf (0.5-Inf) | .074 | >.99 |
| 17q12 del | chr17:34.82-36.22 | 0 | 2 | 0 | 0.01 | 0.065 | 0.0013 | 7.3 | Inf (0.42-Inf) | .095 | >.99 |
| 17q12 dup | chr17:34.82-36.22 | 7 | 11 | 0.026 | 0.054 | 0.089 | 0.028 | 1.9 | 2.2 (0.74-6.76) | .14 | >.99 |
| 2q37 (HDAC4) del | chr2:239.72-243.2 | 0 | 1 | 0 | 0.005 | 0.113 | 0.0023 | 2.1 | Inf (0.067-Inf) | .28 | >.99 |
| 3q28-29 (FGF12) del | chr3:191.86-192.13 | 1 | 3 | 0.004 | 0.015 | 0.045 | 0.0046 | 3.2 | 4.1 (0.3-231.36) | .31 | >.99 |
| 2q13 del | chr2:111.39-112.01 | 1 | 3 | 0.004 | 0.015 | 0.057 | 0.0049 | 3 | 3.6 (0.26-206.03) | .34 | >.99 |
| 2q13 dup | chr2:111.39-112.01 | 4 | 4 | 0.015 | 0.02 | 0.022 | 0.015 | 1.3 | 1.7 (0.3-9.98) | .46 | >.99 |
| 16p11.2 del | chr16:29.65-30.2 | 13 | 6 | 0.049 | 0.029 | 0.347 | 0.055 | 0.5 | 0.61 (0.19-1.79) | .47 | >.99 |
| 16p11.2 distal del | chr16:28.82-29.05 | 5 | 5 | 0.019 | 0.025 | 0.094 | 0.02 | 1.2 | 1.7 (0.37-7.6) | .51 | >.99 |
| 8p23.1 dup | chr8:8.1-11.87 | 0 | 2 | 0 | 0.01 | 0.017 | 0.00038 | 25.7 | Inf (0.13-Inf) | .52 | >.99 |
| 3p11.2 del | chr3:87.27-87.53 | 1 | 2 | 0.004 | 0.01 | 0.031 | 0.0043 | 2.3 | 2.4 (0.11-163.95) | .60 | >.99 |
| 2p15-16.1 proximal dup | chr2:61.25-61.41 | 3 | 1 | 0.011 | 0.005 | 0.031 | 0.012 | 0.4 | 0.37 (0.0066-5.02) | .61 | >.99 |
| TAR del | chr1:145.39-145.81 | 7 | 8 | 0.026 | 0.039 | 0.076 | 0.027 | 1.4 | 1.2 (0.36-3.9) | .80 | >.99 |
| 16p11.2 distal dup | chr16:28.82-29.05 | 12 | 10 | 0.045 | 0.049 | 0.083 | 0.046 | 1.1 | 1.2 (0.44-3.08) | .82 | >.99 |
| 8p23.1 del | chr8:8.1-11.87 | 0 | 1 | 0 | 0.005 | 0.039 | 8.0 × 10–4 | 6.1 | Inf (0.017-Inf) | >.99 | >.99 |
| 12p13 dup | chr12:6.47-6.83 | 0 | 1 | 0 | 0.005 | 0.079 | 0.0016 | 3.1 | Inf (0.019-Inf) | >.99 | >.99 |
| 16p13.11 del | chr16:15.51-16.29 | 12 | 12 | 0.045 | 0.059 | 0.142 | 0.047 | 1.2 | 1.1 (0.43-2.73) | >.99 | >.99 |
| 17q11.2 (NF1) del | chr17:29.11-30.27 | 1 | 0 | 0.004 | 0 | 0.039 | 0.0044 | 0 | 0 (0-46.05) | >.99 | >.99 |
| Distal 22q11.2 del | chr22:21.92-23.65 | 1 | 0 | 0.004 | 0 | 0.041 | 0.0045 | 0 | 0 (0-102.32) | >.99 | >.99 |
Abbreviations: ASD, autism spectrum disorder;
CMH, Cochran-Mantel-Haenszel; CNV, copy number variant; del, deletion; dup, duplication; ID, intellectual disability; Inf, infinity; OR, odds ratio; SZ, schizophrenia; TAR, thrombocytopenia-absent radius syndrome.
a
Results are shown for 23 of the 51 ID CNVs that had at least 1 CNV observed in 20 403 schizophrenia cases or 26 628 controls.
b
P values are Bonferroni corrected for 51 multiple comparisons.