Table 2.
Global contribution of copy number variation regions (CNVRs) on asthma outcome.
| Deletions | Asthmatics | Non-asthmatics | Ratio | p | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mean | SD | Median | P25 | P75 | Mean | SD | Median | P25 | P75 | |||
| CNVR counta | 12.8 | 11.2 | 10.5 | 8.0 | 14.0 | 14.3 | 18.0 | 10.0 | 8.0 | 14.0 | 0.9 | 0.8 |
| Size (kb)b | 35.6 | 94.3 | 11.3 | 5.1 | 28.2 | 26.4 | 63.2 | 9.9 | 5.0 | 24.3 | 1.3 | 0.03 |
| Gene countc | 1.1 | 2.0 | 1.0 | 0.0 | 2.0 | 0.8 | 1.6 | 1.0 | 0.0 | 1.0 | 1.4 | 0.01 |
| Regulatory element countd | 5.1 | 11.6 | 2.0 | 0.0 | 5.0 | 3.9 | 8.7 | 2.0 | 0.0 | 4.0 | 1.3 | 0.03 |
| GERP element counte | 6.1 | 8.1 | 3.9 | 0.5 | 8.0 | 6.5 | 8.6 | 4.2 | 0.7 | 8.7 | 0.9 | 0.1 |
| Duplications | ||||||||||||
| CNVR counta | 3.6 | 4.5 | 2.0 | 1.0 | 4.0 | 3.0 | 3.7 | 2.0 | 1.0 | 4.0 | 1.2 | 0.2 |
| Size (kb)b | 85.1 | 161.2 | 28.1 | 13.6 | 75.8 | 62.1 | 118.3 | 22.9 | 11.2 | 53.1 | 1.4 | 0.05 |
| Gene countc | 2.8 | 4.2 | 1.0 | 0.0 | 3.0 | 2.1 | 3.5 | 1.0 | 0.0 | 2.0 | 1.3 | 0.02 |
| Regulatory element countd | 14.0 | 22.4 | 5.0 | 2.0 | 15.0 | 11.4 | 19.7 | 4.0 | 1.0 | 12.0 | 1.2 | 0.06 |
| GERP element counte | 7.5 | 8.9 | 4.7 | 2.1 | 9.7 | 7.6 | 8.2 | 4.9 | 2.4 | 10.2 | 1.0 | 0.5 |
| Deletions + Duplications | ||||||||||||
| CNVR counta | 16.4 | 12.4 | 13.0 | 10.0 | 18.0 | 17.3 | 18.4 | 13.0 | 10.0 | 18.0 | 1.0 | 0.5 |
| Size (kb)b | 43.0 | 108.4 | 13.0 | 5.8 | 32.9 | 31.6 | 74.8 | 11.4 | 5.5 | 28.9 | 1.4 | 5 × 10−3 |
| Gene countc | 1.4 | 2.7 | 1.0 | 0.0 | 2.0 | 1.0 | 2.1 | 1.0 | 0.0 | 1.0 | 1.4 | 2 × 10−4 |
| Regulatory element countd | 6.8 | 14.8 | 2.0 | 0.0 | 7.0 | 5.0 | 11.5 | 2.0 | 0.0 | 5.0 | 1.4 | 7 × 10−4 |
| GERP element counte | 6.3 | 8.3 | 4.0 | 0.7 | 8.3 | 6.6 | 8.5 | 4.3 | 1.0 | 8.9 | 1.0 | 0.1 |
Asthmatic and non-asthmatic children from Salvador-SCAALA were compared in terms of: acount of CNVRs per individual; bestimated size of CNVRs (kb, kilobase); cnumber of genes captured by CNVR; dnumber of regulatory elements captured by CNVR; enumber of GERP constrained elements captured by CNVR.
SD: standard deviation; P25: 25% percentile; P75: 75% percentile; Ratio: case/ctrl ratio (mean); p values ≤ 0.05 were considered statistically significant [Mann-Whitney U test (two-sided)].