Table 1 Comparison of copy number variations (CNVs) in BD (BDRN data set and previously reported data for BD10, 16, 18), and the combined control data set15 at 15 SZ-CNV-implicated loci
CNV frequency, % (n/N) | ||||||
|---|---|---|---|---|---|---|
Locus | Position | Current BDRN BD study | BD cases combined (total) | Controls (total) | OR (95% CI) | P-value |
1q21.1 del | chr1:146 57–147 39 | 0.039% (1/2591) | 0.033% (3/8968) | 0.021% (17/81 821) | 1.61 (0.47–5.50) | 0.44 |
1q21.1 dup | chr1:146 57–147 39 | 0.039% (1/2591) | 0.099% (8/8084) | 0.037% (24/64 046) | 2.64 (1.19–5.88) | 0.022 |
NRXN1 del | chr2:5015–5126 | 0% (0/2591) | 0% (0/4288) | 0.020% (10/51 161) | NA | 1 |
3q29 del | chr3:195 73–197 34 | 0% (0/2591) | 0.025% (2/8084) | 0.0014% (1/69 965) | 17.31 (1.57–190.97) | 0.03 |
WBS dup | chr7:7274–7414 | 0% (0/2591) | 0% (0/7250) | 0.0058% (2/34 455) | NA | 1 |
VIPR2 dup | chr7:158 82–158 94 | 0% (0/2591) | 0.043% (2/8084) | 0.069% (17/24 812) | 0.36 (0.08–1.56) | 0.19 |
15q11.2 del | chr15:2280–2309 | 0.27% (7/2591) | 0.17% (15/8966) | 0.28% (227/81 802) | 0.60 (0.36–1.02) | 0.052 |
AS/PWS dup | chr15:2482–2843 | 0% (0/2591) | 0% (0/8084) | 0.0063% (3/47 686) | NA | 1 |
15q13.3 del | chr15:3113–3248 | 0% (0/2591) | 0.043% (2/8084) | 0.019% (15/80 422) | 1.32 (0.30–5.80) | 0.66 |
16p13.11 dup | chr16:1551–1630 | 0.23% (6/2591) | 0.11% (9/8084) | 0.13% (93/69 289) | 0.83 (0.42–1.64) | 0.75 |
16p11.2 distal del | chr16:2882–2905 | 0% (0/2591) | 0% (0/4288) | 0.018% (5/27 045) | NA | 1 |
16p11.2 dup | chr16:2964–3020 | 0.12% (3/2591) | 0.13% (12/9129) | 0.030% (19/63 068) | 4.37 (2.12–9.00) | 2.3 × 10−4 |
17p12 del | chr17:1416–1543 | 0.039% (1/2591) | 0.049% (4/8132) | 0.026% (17/65 402) | 1.89 (0.64–5.63) | 0.28 |
17q12 del | chr17:3481–3620 | 0% (0/2591) | 0% (0/7250) | 0.0054% (4/74 447) | NA | 1 |
22q11.2 del | chr22:1902–2026 | 0% (0/2591) | 0.012% (1/8084) | 0% (0/77 055) | NA | 0.095 |
