Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure

Research output: Contribution to journalJournal articleResearchpeer-review

  1. History of cardiovascular disease and cardiovascular biomarkers are associated with 30-day mortality in patients with hip fracture

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Lower risk of hip fractures among Swedish women with large hips?

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Predicting mortality and incident immobility in older Belgian men by characteristics related to sarcopenia and frailty

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Newborn body composition after maternal bariatric surgery

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Danish expanded newborn screening is a successful preventive public health programme

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.

INTRODUCTION: OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure.

METHODS: The study comprised 85 OI patients aged 45 (19-78) years, Sillence type I (n = 58), III (n = 12), and IV (n = 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry. COL1A1 and COL1A2 were sequenced and 68 OI causing mutations identified (46 in COL1A1, 22 in COL1A2). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (n = 67).

RESULTS: A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (p < 0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (p < 0.005), thinner cortexes (p < 0.001), and reduced trabecular number (p < 0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA.

CONCLUSION: The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.

Original languageEnglish
JournalOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Volume27
Issue number11
Pages (from-to)3331-41
ISSN0937-941X
DOIs
Publication statusPublished - 2016

ID: 46497989