Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta
Authors' conclusion
The integration of multi-omics data from human skeleton delineates how WNT1 regulates the differentiation and maturation of skeletal progenitors
Study context
- Population
- Patients with osteogenesis imperfecta from southern ChinaOsteogenesis imperfecta (OI) cohort
- Participants
- 243 patients
- Exposure
- Type XV OI vs COL1A1 quantitative variants and leg-length discrepancy
- Type XV OIn = 25
- Outcome
- Proportion of type XV OI and WNT1 loss-of-function effects
Methodological detailsmulti-omics, single-cell transcriptomics, proteomics, functional assays
- Multi-omics
- Single-cell transcriptomics
- Proteomics
- Functional assays
Main finding
As reported in the abstract
Proportion of type XV patients
10.3%
25 out of 243
Observational data: associations, not effects.
Original publication
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta. J Bone Miner Res. Published 10 August 2024. doi:10.
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