ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2026
Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Fracture risk assessment by dual-energy absorptiometry in osteogenesis imperfecta: A systematic review of measurement sites and its predictive value.Bone reports · 2026Review
- Atypical Femoral Fractures in Adult Patients with Classical Osteogenesis Imperfecta.Calcified tissue international · 2026Article
- Romosozumab in postmenopausal women with classical Osteogenesis imperfecta.Archives of osteoporosis · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
In 115 adult patients with classical OI, reduced bone structure was observed in patients with COL1A1 variants compared to those with COL1A2 variants. In addition, bone structure in the distal radius was differentially affected in individuals with quantitative COL1A1/2 variants in comparison to patients carrying qualitative variants. PURPOSE: Classical osteogenesis imperfecta (OI) is genetically determined by pathogenic variants in the COL1A1/2 genes encoding collagen type I. Although genetic testing is widely used today, the genotype-phenotype correlation is still a matter of debate.
methodsA retrospective analysis was carried out in a total of 115 adult OI patients who presented to our outpatient clinic. Only patients with available genetic test results and clinically diagnosed OI were included. Biochemical parameters, bone density (DXA), and bone microstructure (HR-pQCT) were assessed and compared between genotype variants.
resultsOverall, 71 patients showed (likely) pathogenic variants in the COL1A1 and 44 in the COL1A2 gene. Forty-six variants were predicted as causing quantitative and 58 as causing qualitative effects, whereas the potential effect of 11 variants could not be predicted. COL1A1 variants were associated with significantly lower trabecular bone mineral density (Tb.BMD) and bone volume fraction (BV/TV) compared to COL1A2 variants both at the radius (Tb.BMD: p = 0.008; BV/TV: p = 0.010) and tibia (Tb.BMD: p = 0.015; BV/TV: p = 0.028). In addition, trabecular parameters only in the distal radius were significantly (p < 0.05) reduced in patients with quantitative variants in comparison to patients with qualitative variants. OI type I patients had significantly higher cortical bone mineral density (Ct.BMD) than type III. No other microstructural differences were found between the types I, III, and IV.
conclusionsGenetic stratification in adult OI patients revealed differences in bone microstructure, while these were absent when individuals were grouped according OI types (Sillence classification). Future studies are needed to further investigate the genotype-phenotype correlation in patients with classical OI.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.