Evidence map›Paper›PMID 35052486›Full record

ArticleGenes2022

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Natalia Garcia-Giralt, Neus Roca-Ayats, Josep F Abril, Nuria Martinez-Gil, Diana Ovejero, Santos Castañeda, Xavier Nogues, Daniel Grinberg, Susanna Balcells, Raquel Rabionet

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 25% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025
    Article
  3. 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 · 2024
    Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Natalia Garcia-GiraltMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, 08003 Barcelona, Spain.ORCID 0000-0001-6507-0147
Neus Roca-AyatsDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.ORCID 0000-0002-3898-7088
Josep F AbrilDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.ORCID 0000-0001-7793-589X
Nuria Martinez-GilDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.
Diana OvejeroMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, 08003 Barcelona, Spain.ORCID 0000-0003-1312-4750
Santos CastañedaDepartment of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, Cátedra UAM-Roche, EPID-Future, Universidad Autónoma de Madrid, 28670 Madrid, Spain.
Xavier NoguesMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, 08003 Barcelona, Spain.
Daniel GrinbergDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.
Susanna BalcellsDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.ORCID 0000-0003-1211-1907
Raquel RabionetDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, 08028 Barcelona, Spain.ORCID 0000-0001-5006-8140
Centre for Biomedical Network Research on Rare Diseases · ESInstituto de Salud Carlos III · ESHospital Universitario de La Princesa · ES

Funding

Centro de Investigación Biomédica en Red CB16/10/00245European Regional Development Fund Grant Number Not ApplicableFEIOMM 2017Instituto de Salud Carlos III PI19/00033MCIN/AEI/ 10.13039/501100011033 PID2019-107188RB-C21
6 · The paper itself

Abstract

Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a genetic basis is suggested. We performed whole exome sequencing (WES) analysis of 12 patients receiving BPs for at least 5 years who sustained AFFs and 4 controls, also long-term treated with BPs but without any fracture. After filtration and prioritization of rare variants predicted to be damaging and present in genes shared among at least two patients, a total of 272 variants in 132 genes were identified. Twelve of these genes were known to be involved in bone metabolism and/or AFF, highlighting

Indexed as

Gene Regulatory NetworksAgedBone Density Conservation AgentsCase-Control StudiesDiphosphonatesFemaleFemoral FracturesGene Expression ProfilingGene Expression RegulationHumansOsteoporosis, PostmenopausalBone Density Conservation AgentsDiphosphonatesatypical femoral fracturesbisphosphonatesWES

Identifiers

PMID35052486
PMCPMC8774942
OpenAlexW4205513746

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.