Evidence map›Paper›PMID 39148098›Full record

ArticleHuman genomics2024

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Natalia Garcia-Giralt, Diana Ovejero, Daniel Grinberg, Xavier Nogues, Santos Castañeda, Susanna Balcells, Raquel Rabionet

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

7 authors.

Natalia Garcia-GiraltMusculoskeletal Research Group, Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain. ngarcia@researchmar.net.
Diana OvejeroMusculoskeletal Research Group, Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Daniel GrinbergDpt. Genetics, Microbiology and Statistics, Facultat de Biologia, IBUB, Universitat de Barcelona, Barcelona, Spain.
Xavier NoguesMusculoskeletal Research Group, Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Santos CastañedaDepartment of Rheumatology, Hospital Universitario de La Princesa, IIS-Princesa, EPID-Future, Cátedra UAM- Roche, Universidad Autónoma de Madrid, Madrid, 28670, Spain.
Susanna Balcells *Dpt. Genetics, Microbiology and Statistics, Facultat de Biologia, IBUB, Universitat de Barcelona, Barcelona, Spain.
Raquel Rabionet *Dpt. Genetics, Microbiology and Statistics, Facultat de Biologia, IBUB, Universitat de Barcelona, Barcelona, Spain.

Funding

Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable CB16/10/00245Instituto de Salud Carlos III Miquel ServetInstituto de Salud Carlos III PI19/00033Ministerio de Ciencia e Innovación MCIN/AEI/10.13039/501100011033
6 · The paper itself

Abstract

backgroundRecent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencing in genes involved in monogenic rare skeletal diseases in 12 women with AFF and 4 controls without any fracture.

resultsOut of 33 genetic variants identified in women with AFF, eleven (33.3%) were found in genes belonging to the Wnt pathway (LRP5, LRP6, DAAM2, WNT1, and WNT3A). One of them was rated as pathogenic (p.Pro582His in DAAM2), while all others were rated as variants of uncertain significance according to ClinVar and ACMG criteria.

conclusionsOsteoporosis, rare bone diseases, and AFFs may share the same genes, thus making it even more difficult to identify unique risk factors.

Indexed as

Exome SequencingFemoral FracturesLow Density Lipoprotein Receptor-Related Protein-5Low Density Lipoprotein Receptor-Related Protein-6AgedBone DiseasesCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansMiddle AgedOsteoporosisWnt1 ProteinWnt3A ProteinWnt Signaling PathwayLow Density Lipoprotein Receptor-Related Protein-5Low Density Lipoprotein Receptor-Related Protein-6LRP5 protein, humanLRP6 protein, humanWnt1 ProteinWNT1 protein, humanWnt3A ProteinAFFAtypical femoral fractureMonogenic bone disorderWES

Identifiers

PMID39148098
PMCPMC11328373

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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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 Socratic graph.