ArticleMolecular and cellular biochemistry2015
Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study.
Article in Molecular and cellular biochemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- The Genetics of Atypical Femur Fractures-a Systematic Review.Current osteoporosis reports · 2021Pooled it
- Epidemiology, Pathophysiology and Management of Atypical Femur Fractures: an Update.Current osteoporosis reports · 2025Review
- Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures.International journal of molecular sciences · 2024Article
- Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.Genes · 2022Article
- Is there a familial predisposition to bisphosphonate-induced atypical femoral fractures?Turkish journal of physical medicine and rehabilitation · 2021Article
- Incidence of Atypical Femoral Fracture and Its Mortality in a Single Center in Singapore.JBMR plus · 2021Article
- Evaluation and management of atypical femoral fractures: an update of current knowledge.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2021Review
- Incidence of Mutations in theJBMR plus · 2019Article
- Current Understanding of Epidemiology, Pathophysiology, and Management of Atypical Femur Fractures.Current osteoporosis reports · 2018Review
- A proposal for an atypical femur fracture treatment and prevention clinical practice guideline.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Review
- Review
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atraumatic subtrochanteric and diaphyseal (atypical) femoral fractures are a rare, but important adverse event in patients treated with potent anti-resortive agents. The mechanisms involved are unknown and particularly the association with genetic variants has not been explored. The aim of the study was to identify rare genetic variants that could be associated with the occurrence of these fractures. We performed a genome-wide analysis of up to 300,000 variants, mainly distributed in gene coding regions, in 13 patients with atypical femoral fractures and 268 control women, either healthy or with osteoporosis. Twenty one loci were more frequent in the fracture group, with a nominal p value between 1 × 10(-6) and 2.5 × 10(-3). Most patients accumulated two or more allelic variants, and consequently the number of risk variants was markedly different between patients and controls (p = 2.6 × 10(-22)). The results of this pilot study suggest that these fractures are polygenic and are associated with the accumulation of changes in the coding regions of several genes.
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