ArticleThe Journal of clinical endocrinology and metabolism2025
Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Artificial Intelligence for Evidence Synthesis of Emerging Biologics to Improve Skeletal Health in Osteogenesis Imperfecta: Systematic Review and Meta-Analysis.Journal of medical Internet research · 2026Pooled it
- Fracture risk assessment by dual-energy absorptiometry in osteogenesis imperfecta: A systematic review of measurement sites and its predictive value.Bone reports · 2026Review
- Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients.Frontiers in endocrinology · 2026Article
- Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Extendable intramedullary nailing in a child with osteogenesis imperfecta of bilateral femoral fractures: a case report.Frontiers in surgery · 2025Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextOsteogenesis imperfecta (OI) is a rare genetic bone disorder characterized by recurrent fractures. In adults, the value of bone mineral density (BMD) in fracture risk is unknown.
objectiveWe prospectively investigated changes in BMD over time and analyzed the determinants of fracture in OI.
methodsAmong 106 individuals with grade 1 and 4 OI in the Reference Centre of Rare Bone Diseases in Paris, we included those with BMD measurements at 1 or more skeletal sites (hip, lumbar spine, radius) from 2000 to 2022.
resultsFor 71 individuals with reliable measurements (44 women, 8 postmenopausal; mean age 41.4 ± 13.7 years), baseline BMD was low at the lumbar spine only (mean Z-score -2.3 ± 1.5), affecting mainly men (mean Z-score -3 ± 1.6). Longitudinal changes were assessed for a median follow-up of 5.1 years (interquartile range 3.2-8.8). On adjustment for age, sex, and body mass index, BMD did not significantly change at any site. Logistic regression analysis revealed a high probability of fracture with baseline BMD Z-score <-2 SD vs ≥-2 SD [odds ratio 4.38, 95% confidence interval (CI) 1.10-21.75, P = .048] and harboring splicing, stop codon, and frameshift variants of COL1 gene (odds ratio 29.8, 95% CI 2.56-1503, P = .024).
conclusionOur 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.
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