Table 1. Comparison of copy number variations (CNVs) in BD (BDRN data set and previously reported data for BD 10, 16, 18 ), and the combined control data set 15 at 15 SZ-CNV-implicated loci.
CNV frequency, % (n/N) |
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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 |
Abbreviations: BD, bipolar disorder; CI, confidence interval; Del, deletions; Dup, duplications; NA, not applicable; OR, odds ratio.
Positions are in Mb for UCSC Build hg19.