Table 3. Structural variant burden analysis.
The burden of rare autosomal structural variants intersecting with (a) at least one exon or (b) a cis-regulatory element was compared between 132 cases and 23,727 controls. cCRE, candidate cis-regulatory element; PUV, posterior urethral valves; CNV, copy number variant; DEL, deletion; DUP, duplication; INV, inversion; OR, odds ratio; CI, 95% confidence interval, IQR, interquartile range.
| EXON | cCRE | ||||
|---|---|---|---|---|---|
| PUV | Controls | PUV | Controls | ||
| CNV | n (%) | 109 (82.6) | 17,961 (75.7) | 111 (84.1) | 18,773 (79.1) |
| OR (CI) | 1.52 (0.96–2.50) | 1.39 (0.87–2.34) | |||
| Fisher’s exact p | 0.07 | 0.2 | |||
| Median size (kb) (IQR) | 104 (183) | 94 (158) | 80 (165) | 80 (128) | |
| p (Wilcoxon) | 0.75 | 0.75 | |||
| DEL | n (%) | 117 (88.6) | 19,987 (84.2) | 132 (100) | 23,031 (97.1) |
| OR (CI) | 1.46 (0.85–2.69) | Inf | |||
| Fisher’s exact p | 0.19 | 0.04 | |||
| Median size (kb) (IQR) | 1.4 (4.2) | 1.8 (4.6) | 1.5 (4.1) | 1.9 (4.5) | |
| p (Wilcoxon) | 0.18 | 4.1×10–4 | |||
| DUP | n (%) | 59 (44.7) | 8,476 (35.7) | 104 (78.8) | 16,004 (67.5) |
| OR (CI) | 1.45 (1.01–2.08) | 1.79 (1.17–2.83) | |||
| Fisher’s exact p | 0.04 | 5.0×10–3 | |||
| Median size (kb) (IQR) | 3.7 (5.7) | 3.0 (5.6) | 2.0 (5.3) | 2.3 (5.3) | |
| p (Wilcoxon) | 0.16 | 0.49 | |||
| INV | n (%) | 66 (50.0) | 8,736 (36.8) | 81 (61.4) | 11,171 (47.1) |
| OR (CI) | 1.72 (1.20–2.45) | 1.79 (1.24–2.59) | |||
| Fisher’s exact p | 2.1×10–3 | 1.2×10–3 | |||
| Median size (kb) (IQR) | 253 (1931) | 261 (1642) | 129 (459) | 94 (779) | |
| p (Wilcoxon) | 0.44 | 0.12 |