Periostin - A Serum Biomarker for Osteogenesis Imperfecta Progression

Periostin – A Serum Biomarker for Osteogenesis Imperfecta Progression

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. It is caused by mutations in the genes responsible for producing collagen, a vital protein for bone strength and structure. Symptoms can vary widely, from mild bone fragility to frequent fractures, joint laxity, hearing loss, dental issues, and skeletal deformities. There are several types of OI, ranging from mild to severe, with the most common being Type I (1, 2).

Management of OI focuses on strengthening bones, reducing fracture risk, and improving quality of life through medications, physical therapy, and sometimes surgical interventions (3, 4). Advances in research, including biomarkers like Periostin, are helping to better understand disease severity and develop targeted treatments.

Periostin – A Serum Biomarker for Osteogenesis Imperfecta Progression

In a first-time study, researchers investigated the relationship between serum Periostin levels and disease severity in adults with OA, highlighting its potential link with skeletal severity. Periostin was measured in serum samples using the Periostin ELISA from Biomedica (cat.no. BI-20433).

Key findings

• Periostin serum levels are higher in adults with OI compared to healthy controls.
• Elevated circulating Periostin levels in adults with OI are associated with increased disease severity.
• Serum Periostin could potentially serve as a biomarker for assessing disease progression or severity in OI.

 

This research offers a new, non-invasive way to assess and track the progression of OI in adults.

Elevated periostin level in serum of adults with Osteogenesis Imperfecta is associated with disease severity. Mercier-Guery A, Auroux M, Gineyts E, Borel O, Szulc P, Sornay-Rendu E, Fontanges E, Croset M, Rousseau JC, Chapurlat R. J Clin Endocrinol Metab. 2026 Mar 17:dgag119. doi: 10.1210/clinem/dgag119. Epub ahead of print. PMID: 41841693.

Abstract

Objective: In Osteogenesis Imperfecta (OI), phenotypic variability and the limited predictive value of genotype-phenotype correlations underscore the need for reliable predictive marker of disease severity. Periostin is a matricellular protein involved in bone formation, remodeling, and response to mechanical stress. It interacts with type I collagen and modulates osteoblast activity via Wnt/β-catenin and TGF-β signaling. Given its established role in other bone disorders, we hypothesized that circulating periostin may be a relevant biomarker in OI.

Methods: We performed a matched case-control analysis of serum periostin levels in 61 adult patients with OI and 61 age-, sex-, and BMI-matched controls. Periostin was measured by ELISA. Associations between periostin levels and clinical variables were assessed using t-tests, Pearson correlations, and multivariable linear regression models.

Results: Mean periostin levels were significantly higher in OI patients than in controls (796.5 ± 209 vs. 713.6 ± 167 pmol/L, p = 0.017). Among OI patients, higher periostin level was associated with female sex (p = 0.01), presence of scoliosis (p = 0.01), and Sillence type III (p = 0.05). Positive correlations were observed between periostin and markers of axial skeletal severity as height-wingspan discrepancy (r = 0.30, p = 0.023). In multivariable analysis, the number of severe fractures (defined as femur/pelvis/humerus/vertebral fractures) was independently associated with higher periostin level (β = 25.6, p = 0.041), while smoking was negatively associated (β = -269.8, p = 0.012).

Conclusion: This study is the first to report the elevated circulating level of periostin in adults with OI and its association with disease severity.

Assay Highlights – PERIOSTIN ELISA (Cat. No. BI-20433)

• Only assay that detects all known Periostin isoforms
• Extensively validated according to international quality guidelines
• 7 human serum-based standards and 2 controls included
• Small sample volume – 10 µl / well
• Reliable – widely referenced 

 

Download our Periostin Flyer here

 

Literature

1. Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations. Chaugule S, Constantinou CK, John AA, Micha D, Eekhoff M, Gravallese E, Gao G, Shim JH. Hum Gene Ther. 2025 Mar;36(5-6):597-617. doi: 10.1089/hum.2024.191. Epub 2025 Feb 11. PMID: 39932815; PMCID: PMC11971546.
2. Osteogenesis imperfecta. BJA Educ. Chan E, DeVile C, Ratnamma VS.2023 May;23(5):182-188. doi: 10.1016/j.bjae.2023.01.005. Epub 2023 Feb 24. PMID: 37124171; PMCID: PMC10140476.
3. Early Life Management of Osteogenesis Imperfecta. Arundel P, Borg SA.Curr Osteoporos Rep. 2023 Dec;21(6):779-786. doi: 10.1007/s11914-023-00823-5. Epub 2023 Sep 26. PMID: 37752354; PMCID: PMC10724332.
4. Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta. Arundel P, Bishop N. Calcif Tissue Int. 2024 Dec;115(6):812-827. doi: 10.1007/s00223-024-01202-7. Epub 2024 Mar 29. PMID: 38553634; PMCID: PMC11606989.
5. OI- Osteogenesis Imperfecta Foundation