Table 1. SZ and BD associations of 15 previously implicated large CNV loci (EA).
|
(a) SZ associations of 15 previously implicated CNV loci (dbGaP EA) | |||||
|---|---|---|---|---|---|
| CNVR | Region start | Region end | HC freq | SZ freq | P-valuea |
| 1q21.1 dup | 144 643 825b | 146 395 960 | 0.00000 | 0.00210 | 3.19E−02 |
| 1q21.1 del | 144 643 825 | 146 395 960 | 0.00042 | 0.00083 | 5.04E−01 |
| NRXN1 del | 50 429 732 | 51 543 819 | 0.00000 | 0.00083 | 2.52E−01 |
| 3q29 del | 197 190 376 | 198 838 385 | 0.00000 | 0.00166 | 6.36E−02 |
| WBS dup | 72 297 543 | 73 780 040 | 0.00000 | 0.00124 | 1.27E−01 |
| VIPR2 dup | 158 137 395 | 158 819 765 | 0.00042 | 0.00083 | 5.04E−01 |
| 15q11.2 del | 20 302 458 | 20 852 214 | 0.00084 | 0.00124 | 5.05E−01 |
| AS/PWS dup | 20 224 763 | 26 742 083 | 0.00000 | 0.00041 | 5.02E−01 |
| 15q13.3 del | 28 173 703 | 30 664 276 | 0.00042 | 0.00290 | 3.61E−02 |
| 16p13.11 dup | 15 306 385 | 16 588 399 | 0.00042 | 0.00000 | 1.00E+00 |
| 16p11.2 del | — | — | — | — | — |
| 16p11.2 dup | 29 158 416 | 30 134 444 | 0.00000 | 0.00373 | 2.02E−03 |
| 17p12 del | 14 023 683 | 15 425 596 | 0.00042 | 0.00000 | 1.00E+00 |
| 17q12 del | 31 610 407 | 33 552 901 | 0.00000 | 0.00041 | 5.02E−01 |
| 22q11.2 del | 17 028 880 | 20 058 138 | 0.00000 | 0.00662 | 1.61E−05 |
|
(b) BD associations of 15 previously implicated CNV loci (dbGaP EA) | |||||
|---|---|---|---|---|---|
| CNVR | Region start | Region end | HC freq | BD freq | P-valuec |
| 1q21.1 dup | 144 643 825 | 146 395 960 | 0.00000 | 0.00507 | 7.85E−03 |
| 1q21.1 del | 144 643 825 | 146 395 960 | 0.00042 | 0.00000 | 1.00E+00 |
| NRXN1 del | — | — | — | — | — |
| 3q29 del | — | — | — | — | — |
| WBS dup | — | — | — | — | — |
| VIPR2 dup | 158 137 395 | 158 652 131 | 0.00042 | 0.00000 | 1.00E+00 |
| 15q11.2 del | 20 302 458 | 20 852 214 | 0.00084 | 0.00000 | 1.00E+00 |
| AS/PWS dup | — | — | — | — | — |
| 15q13.3 del | 28 173 703 | 30 337 043 | 0.00042 | 0.00000 | 1.00E+00 |
| 16p13.11 dup | 15 306 385 | 16 588 399 | 0.00042 | 0.00000 | 1.00E+00 |
| 16p11.2 del | — | — | — | — | — |
| 16p11.2 dup | 29 425 212 | 30 099 408 | 0.00084 | 0.00000 | 1.00E+00 |
| 17p12 del | 14 019 001 | 15 467 881 | 0.00042 | 0.00169 | 3.58E−01 |
| 17q12 del | — | — | — | — | — |
| 22q11.21 del | 17 052 885 | 20 058 138 | 0.00000 | 0.00169 | 1.99E−01 |
Abbreviations: BD, bipolar disorder; CNV, copy number variant; CNVR, CNV region; dbGaP, Database of Genotypes and Phenotypes; EA, European Ancestry; freq, frequency; HC, healthy control; SZ, schizophrenia.
a
Fisher exact test, one-tailed (Rees et al.18).
b
Positions are in bp for UCSC Build hg18.
c
Fisher exact test, two-tailed (Green et al.22).