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Published on: January 29, 2018
Correlation of serum DKK1 level with skeletal phenotype in children with osteogenesis imperfecta
1Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No. 1, Beijing, 100730, Dongcheng District, China.
Insights
Serum DKK1 levels are elevated in children with Osteogenesis Imperfecta (OI) and correlate with skeletal phenotype. This suggests Dickkopf-1 (DKK1) may be a biomarker and therapeutic target for OI.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Biomarker Discovery
Background:
- Osteogenesis Imperfecta (OI) is a group of genetic disorders characterized by bone fragility.
- Understanding the molecular mechanisms underlying OI is crucial for developing effective treatments.
Purpose of the Study:
- To measure serum Dickkopf-1 (DKK1) levels in pediatric patients with OI.
- To investigate the relationship between serum DKK1 levels and the genotype and phenotype of OI patients.
Main Methods:
- Serum DKK1 levels were measured using enzyme-linked immunosorbent assay in 62 OI children and 29 healthy controls.
- Bone mineral density (BMD) was assessed by Dual-energy X-ray absorptiometry.
- Genetic analysis using next-generation sequencing identified OI-causing mutations.
Main Results:
- Serum DKK1 concentration was significantly higher in OI children compared to healthy children (P < 0.001).
- DKK1 levels negatively correlated with height, height Z score, ALP, and BMD.
- Serum DKK1 was positively correlated with spinal deformity (SDI) in OI patients with spinal deformity.
Conclusions:
- Serum DKK1 is elevated in pediatric OI patients and correlates with skeletal phenotypes.
- DKK1 shows potential as a novel biomarker for OI.
- DKK1 may represent a future therapeutic target for Osteogenesis Imperfecta.
Purpose:
We aim to detect serum DKK1 level of pediatric patients with OI and to analyze its relationship with the genotype and phenotype of OI patients.
Methods:
A cohort of pediatric OI patients and age-matched healthy children were enrolled. Serum levels of DKK1 and bone turnover biomarkers were measured by enzyme-linked immunosorbent assay. Bone mineral density (BMD) was measured by Dual-energy X-ray absorptiometry. Pathogenic mutations of OI were detected by next-generation sequencing and confirmed by Sanger sequencing.
Results:
A total of 62 OI children with mean age of 9.50 (4.86, 12.00) years and 29 healthy children were included in this study. The serum DKK1 concentration in OI children was significantly higher than that in healthy children [5.20 (4.54, 6.32) and 4.08 (3.59, 4.92) ng/mL, P < 0.001]. The serum DKK1 concentration in OI children was negatively correlated with height (r = - 0.282), height Z score (r = - 0.292), ALP concentration (r = - 0.304), lumbar BMD (r = - 0.276), BMD Z score of the lumbar spine and femoral neck (r = - 0.32; r = - 0.27) (all P < 0.05). No significant difference in serum DKK1 concentration was found between OI patients with and without vertebral compression fractures. In patients with spinal deformity (22/62), serum DKK1 concentration was positively correlated with SDI (r = 0.480, P < 0.05). No significant correlation was observed between serum DKK1 concentration and the annual incidence of peripheral fractures, genotype and types of collagen changes in OI children.
Conclusion:
The serum DKK1 level was not only significantly elevated in OI children, but also closely correlated to their skeletal phenotype, suggesting that DKK1 may become a new biomarker and a potential therapeutic target of OI.
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