Table 3. Individual regions with strongest association between CNVs and asthma risk.
| Chromosome | 1q21 | 17q21 |
| CNV type | Deletion | Deletion |
| Average CNV span (range) (kb) | 283 (102–775) | 320 (129–432) |
| Range shared region (bp) | 146397003–146438291 | 42008822–42137359 |
| Length shared region (kb) | 41 | 129 |
| N cases with CNV/total | 8/270 | 20/270 |
| N controls with CNV/total | 2/489 | 18/489 |
| OR | 7 | 2 |
| P-value | 0.0051 | 0.0196 |
| Corrected P-valuea | 0.4403 | 0.9947 |
| Genes in region ±50 kb | NBPF1, NBPF10, NBPF12, NBPF14, PPIAL4A | ARL17, ARL17P1, ARL17A, ARL17B, NSF |
| SNP most correlated with CNV (r2) | rs7554500 (0.05) | rs7225002 (0.30) |
| Visual validation of CNVsb | Ambiguous | Yes |
a
Significance after correcting for all deletions or duplications tested across the genome, estimated from 10 000 permutations.
b
Local log R ratio patterns for individuals identified as carrying a deletion were inspected to validate the respective CNV calls produced by QuantiSNPv1.1. Intensity patterns for the 17q21 but not for the 1q21 regions were consistent with the CNV calls made (Supplementary Figures 3 and 4).