ArticleGenome medicine2021
Improved prediction of fracture risk leveraging a genome-wide polygenic risk score.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 3 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 3 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Pooled it
- Pooled it
- Using a Polygenic Score to Predict the Risk of Developing Primary Osteoporosis.International journal of molecular sciences · 2022Pooled it
- Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026Review
- Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study.Journal of human genetics · 2026Article
- A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change.Genome medicine · 2026Article
- Validation of fracture-derived polygenic scores with FRAX for fracture risk prediction in postmenopausal women.Archives of osteoporosis · 2026Article
- The gSOS polygenic score is associated with bone density and fracture risk in childhood.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Polygenic Risk Score as a Predictor of Bone Fracture or Osteoporosis in Prostate Cancer Patients Receiving Androgen Deprivation Therapy.Cancer medicine · 2025Article
- Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.Genomics, proteomics & bioinformatics · 2025Article
- Prevalence and predictors of low bone mineral density in pediatric inflammatory bowel disease.Journal of pediatric gastroenterology and nutrition · 2025Article
- Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.Current osteoporosis reports · 2025Review
- Walking pace and its association with osteoporosis and pathological fractures: insights from UK biobank.Frontiers in endocrinology · 2025Article
- Article
- Race-specific FRAX models are evidence-based and support equitable care: a response to the ASBMR Task Force report on Clinical Algorithms for Fracture Risk.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
- Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study.PLoS medicine · 2024Article
- A plasma protein-based risk score to predict hip fractures.Nature aging · 2024Article
- Enhanced fracture risk prediction: a novel multi-trait genetic approach integrating polygenic scores of fracture-related traits.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
- Enhanced osteoporotic fracture prediction in postmenopausal women using Bayesian optimization of machine learning models with genetic risk score.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 6 countries.
Funding
Abstract
backgroundAccurately quantifying the risk of osteoporotic fracture is important for directing appropriate clinical interventions. While skeletal measures such as heel quantitative speed of sound (SOS) and dual-energy X-ray absorptiometry bone mineral density are able to predict the risk of osteoporotic fracture, the utility of such measurements is subject to the availability of equipment and human resources. Using data from 341,449 individuals of white British ancestry, we previously developed a genome-wide polygenic risk score (PRS), called gSOS, that captured 25.0% of the total variance in SOS. Here, we test whether gSOS can improve fracture risk prediction.
methodsWe examined the predictive power of gSOS in five genome-wide genotyped cohorts, including 90,172 individuals of European ancestry and 25,034 individuals of Asian ancestry. We calculated gSOS for each individual and tested for the association between gSOS and incident major osteoporotic fracture and hip fracture. We tested whether adding gSOS to the risk prediction models had added value over models using other commonly used clinical risk factors.
resultsA standard deviation decrease in gSOS was associated with an increased odds of incident major osteoporotic fracture in populations of European ancestry, with odds ratios ranging from 1.35 to 1.46 in four cohorts. It was also associated with a 1.26-fold (95% confidence interval (CI) 1.13-1.41) increased odds of incident major osteoporotic fracture in the Asian population. We demonstrated that gSOS was more predictive of incident major osteoporotic fracture (area under the receiver operating characteristic curve (AUROC) = 0.734; 95% CI 0.727-0.740) and incident hip fracture (AUROC = 0.798; 95% CI 0.791-0.805) than most traditional clinical risk factors, including prior fracture, use of corticosteroids, rheumatoid arthritis, and smoking. We also showed that adding gSOS to the Fracture Risk Assessment Tool (FRAX) could refine the risk prediction with a positive net reclassification index ranging from 0.024 to 0.072.
conclusionsWe generated and validated a PRS for SOS which was associated with the risk of fracture. This score was more strongly associated with the risk of fracture than many clinical risk factors and provided an improvement in risk prediction. gSOS should be explored as a tool to improve risk stratification to identify individuals at high risk of fracture.
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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.