Enrichment of distal chromosome 16p11.2 duplication in adolescent idiopathic scoliosis (AIS) cases
| AIS cases | In-house controls | P value | Published controls29 | P value | |
| Discovery (IDT) | 8/1197 (0.7%) | 1/1664 (0.06%) | 0.005 | 8/19584 (0.04%) | 1.05×10–6 |
| Replication 1 (Texas) | 8/1097 (0.9%) | 0/746 (0.0%) | 0.01 | 8/19584 (0.04%) | 5.64×10–7 |
| Replication 2 (St. Louis) | 2/433 (0.4%) | – | – | 8/19584 (0.04%) | 0.02 |
| Combined | 18/2727 (0.7%) | 1/2410 (0.04%) | 0.0001 | 8/19584 (0.04%) | 2.28×10–11 |