Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta
Authors' conclusion
Genetic stratification in adult OI patients revealed differences in bone microstructure, while these were absent when individuals were grouped according OI types (Sillence classification). Future studies are needed to further investigate the genotype-phenotype correlation in patients with classical OI.
Study context
- Population
- Adults with clinically diagnosed classical osteogenesis imperfecta and available genetic test results, outpatient clinic
- Participants
- 115 adults
- Exposure
- COL1A1 vs COL1A2 variants; quantitative vs qualitative variants
- COL1A1n = 71
- COL1A2n = 44reference
- Outcome
- Trabecular BMD (Tb.BMD) and bone volume fraction (BV/TV) by HR-pQCT, COL1A1 vs COL1A2
Methodological detailssingle outpatient clinic
- Single outpatient clinic
Main finding
As reported in the abstract
- COL1A1 vs COL1A2: P = 0.008
- COL1A1 vs COL1A2: P = 0.010
- COL1A1 vs COL1A2: P = 0.015
- COL1A1 vs COL1A2: P = 0.028
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Trabecular parameters by predicted variant effect (46 quantitative, 58 qualitative, 11 not predictable)Quantitative vs Qualitative | P < 0.05 |
Bone microstructure by osteogenesis imperfecta (OI) type (Sillence I, III, IV)
- OI type I had significantly higher cortical BMD (Ct.BMD) than type III
- No other microstructural differences between types I, III and IV
Original publication
Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta. Osteoporos Int. Published 9 December 2025. doi:10.
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