Table 1.
Statistical analysis result on genotype–phenotype correlation and phenotype–phenotype correlation.
| (A) Relationship between clinical characteristics and different variation types (Gly-substitution mutation vs. Frameshift, nonsense, and splicing mutation) in COL1A1 and COL1A2 of 129 patients with OI. | ||||
|---|---|---|---|---|
| Phenotype | Gly-substitution missense (n = 59) | Other variation (Frameshift, nonsense, and splicing) (n = 70) | Total case (Gly/other) | P value |
| OI Type(I/III/IV) | 23.7%/23.7%/52.6% | 80%/2%/18% | 38/50 | 1.53E-07 |
| Gender(F/M) | 54.2%/45.8% | 58.6%/41.4% | 59/70 | 0.7218 |
| COL1A1 / COL1A2 mutation | 40.7%/59.3% | 97.1%/2.9% | 58/70 | 1.83E-13 |
| Bone deformity | 80% | 58.50% | 45/53 | 0.02946 |
| Hypermobile joints | 83.3% | 100% | 12/3 | 1 |
| Dense metaphyseal bands | 81.8% | 50.0% | 11/2 | 0.4231 |
| Vertebral anomalies | 51.1% | 31.3% | 45/48 | 0.06021 |
| Vertebral fracture | 40.0% | 42.1% | 20/19 | 1 |
| Osteopenia | 100% | 100% | 1/2 | 1 |
| Dentinogenesis imperfecta | 56.9% | 35.2% | 51/54 | 0.03189 |
| Blue sclera | 70.7% | 77.1% | 58/72 | 0.4243 |
| Hearing loss | 14.0% | 18.5% | 50/54 | 0.6024 |
| Walking with assistance | 31.0% | 0% | 29/42 | 0.0001345 |
| Triangular face | 25.8% | 16.7% | 31/42 | 0.3889 |
| Popcorn calcif | 25.0% | 0% | 12/2 | 1 |
| (B) Relationship between dentinogenesis imperfecta and bone deformity/vertebral anomalies. Phenotype with significant difference (p < 0.05) are represented in bold font. | ||||
| Phenotype | Dentinogenesis imperfecta (Y) | Dentinogenesis imperfecta (N) | Total case (DI(Y)/DI(N)) | P value |
| Bone deformity | 85.10% | 52.90% | 47/51 | 0.0005576 |
| Vertebral anomalies | 53.50% | 30% | 43/50 | 0.01832 |