Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study
Authors' conclusion
Our OI cohort showed low BMD at the lumbar spine but no significant change at any site after a median of 5.0 years of follow-up. The probability of fracture was associated with baseline BMD Z-score <-2 SD vs ≥-2 SD and harboring COL1 splicing, stop codon, and frameshift variants.
Study context
- Population
- Adults with grade 1 and 4 osteogenesis imperfecta (OI) with bone mineral density (BMD) measurements at ≥1 skeletal site (hip, lumbar spine, radius), Reference Centre of Rare Bone Diseases in Paris, 2000–202271 with reliable measurements
- Participants
- 106 adults
- Exposure
- Baseline BMD Z-score <−2 SD vs ≥−2 SD; COL1 splicing, stop codon and frameshift variants
- Outcome
- Changes in BMD over time and determinants of fracture
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Determinants of fracture (logistic regression)
Odds ratio (95% CI)P value
Baseline BMD Z-score <−2 SDvs ≥−2 SD
4.38(1.10–21.75)
P = 0.048COL1 splicing, stop codon and frameshift variants
29.8(2.56–1503)
P = 0.024Observational data: associations, not effects.
Further findings
Baseline lumbar spine BMD Z-score
- Mean lumbar spine Z-score, all (low at lumbar spine only)
- −2.3 ± 1.5
- Mean lumbar spine Z-score, men
- −3 ± 1.6
Original publication
Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study. J Clin Endocrinol Metab. Published 8 November 2024. doi:10.
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