Evidence map›Paper›PMID 34173013›Full record

ArticleCalcified tissue international2021

A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.

Raphaël De Ridder, Geert Vandeweyer, Eveline Boudin, Gretl Hendrickx, Yentl Huybrechts, Tycho Canter Cremers, Jean-Pierre Devogelaer, Geert Mortier, Erik Fransen, Wim Van Hul

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In one paragraph

Article in Calcified tissue international, 2021. 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
0.1field-weighted citation impact, top 55% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

10 authors at 2 institutions in 1 country.

Raphaël De RidderCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Geert VandeweyerCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Eveline BoudinCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Gretl HendrickxCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Yentl HuybrechtsCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Tycho Canter CremersCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Jean-Pierre DevogelaerDepartment of Rheumatology, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium.
Geert MortierCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Erik FransenCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium.
Wim Van HulCenter of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium. wim.vanhul@uantwerpen.be.ORCID 0000-0002-5065-7858
University of Antwerp · BEUCLouvain · BE

Funding

Fonds Wetenschappelijk Onderzoek 12D1717NFonds Wetenschappelijk Onderzoek (BE) 12A3814NFonds Wetenschappelijk Onderzoek (BE) 1S07717NResearch fund of the University of Antwerp FFB190208
6 · The paper itself

Abstract

Paget's disease of bone (PDB) is a common bone disorder characterized by focal lesions caused by increased bone turnover. Monogenic forms of PDB and PDB-related phenotypes as well as genome-wide association studies strongly support the involvement of genetic variation in components of the NF-κB signaling pathway in the pathogenesis of PDB. In this study, we performed a panel-based mutation screening of 52 genes. Single variant association testing and a series of gene-based association tests were performed. The former revealed a novel association with NFKBIA and further supports an involvement of variation in NR4A1, VCP, TNFRSF11A, and NUP205. The latter indicated a trend for enrichment of rare genetic variation in GAB2 and PRKCI. Both single variant tests and gene-based tests highlighted two genes, NR4A1 and NUP205. In conclusion, our findings support the involvement of genetic variation in modulators of NF-κB signaling in PDB and confirm the association of previously associated genes with the pathogenesis of PDB.

Indexed as

NF-kappa BOsteitis DeformansGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMutationSequestosome-1 ProteinSignal TransductionNF-kappa BSequestosome-1 ProteinMolecular inversion probesPaget’s disease of bonePathogenesisTargeted sequencing

Identifiers

PMID34173013
OpenAlexW3173601147

What OpenQuestion holds

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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 OpenQuestion graph.