TABLE 1.
Association analysis of LP‐CNVs in PRKN with risk of SCZ or ASD.
| LP‐CNV type | Genotype counts (allelic/non) | ORs (95% CI) | p‐value | ||||||
|---|---|---|---|---|---|---|---|---|---|
| SCZ | ASD | CON | SCZ | ASD | NPD | SCZ | ASD | NPD | |
| Monoallelic | |||||||||
| DEL | 28/2985 | 8/1197 | 18/2653 | 1.38 (0.76–2.51) | 0.99 (0.43–2.27) | 1.27 (0.72–2.24) | 0.30 | 1.00 | 0.48 |
| DUP | 7/3006 | 4/1201 | 5/2666 | 1.24 (0.39–3.92) | 1.78 (0.48–6.63) | 1.39 (0.48–4.02) | 0.78 | 0.47 | 0.62 |
| DEL or DUP | 35/2978 | 12/1193 | 23/2648 | 1.35 (0.80–2.30) | 1.16 (0.57–2.34) | 1.30 (0.79–2.14) | 0.29 | 0.72 | 0.33 |
| E2 DEL 16 | 12/3001 | 2/1203 | 4/2667 | 2.67 (0.86–8.28) | 1.11 (0.20–6.06) | 2.22 (0.73–6.75) | 0.09 | 1.00 | 0.23 |
| E2 DUP 16 | 6/3007 | 3/1202 | 5/2666 | 1.06 (0.32–3.49) | 1.33 (0.32–5.58) | 1.14 (0.38–3.41) | 1.00 | 0.71 | 1.00 |
| E2 DEL or DUP 16 | 18/2995 | 5/1200 | 9/2662 | 1.78 (0.80–3.96) | 1.23 (0.41–3.69) | 1.62 (0.75–3.51) | 0.18 | 0.77 | 0.28 |
| E5‐12 DEL 19 | 6/3007 | 3/1202 | 3/2668 | 1.77 (0.44–7.10) | 2.22 (0.45–11.01) | 1.90 (0.51–7.03) | 0.52 | 0.38 | 0.39 |
| Region A (E3‐4) 18 | 17/2996 | 5/1200 | 14/2657 | 1.08 (0.53–2.19) | 0.79 (0.28–2.20) | 1.00 (0.51–1.95) | 0.86 | 0.81 | 1.00 |
| Region B (E5) 18 | 3/3010 | 3/1202 | 2/2669 | 1.33 (0.22–7.97) | 3.33 (0.56–19.96) | 1.90 (0.38–9.43) | 1.00 | 0.18 | 0.50 |
| Region C (E6‐7) 18 | 4/3009 | 1/1204 | 2/2669 | 1.77 (0.32–9.69) | 1.11 (0.10–12.24 | 1.58 (0.31–8.17) | 0.69 | 1.00 | 0.71 |
| Biallelic | |||||||||
| DEL or DUP | 1/3012 | 0/1205 | 0/2671 | ∞ | NaN | ∞ | 1.00 | 1.00 | 1.00 |
Abbreviations: ASD, autism spectrum disorder; CI, confidence interval; CON, healthy controls; DEL, deletion; DUP, duplication; E(n): exon (n); LP‐CNVs, likely pathogenic copy number variations; NPD, neuropsychiatric disorder; ORs, odds ratios; SCZ, schizophrenia.