Evidence map›Paper›PMID 33929316›Full record

SynthesiseLife2021

Epigenetic analysis of Paget's disease of bone identifies differentially methylated loci that predict disease status.

Ilhame Diboun, Sachin Wani, Stuart H Ralston, Omar Me Albagha

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Latest developments in Paget's disease of bone.European journal of endocrinology · 2025
    Review
  4. Article
  5. Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022
    Review
  6. Article
  7. 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

4 authors at 2 institutions in 2 countries.

Ilhame DibounDivision of Genomic and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Sachin WaniCentre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Stuart H RalstonCentre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Omar Me AlbaghaDivision of Genomic and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0001-5916-5983
Hamad bin Khalifa University · QAInstitute of Genetics and Cancer · GB

Funding

Arthritis Research UK 13627Wellcome Trust
6 · The paper itself

Abstract

Paget's disease of bone (PDB) is characterized by focal increases in disorganized bone remodeling. This study aims to characterize PDB-associated changes in DNA methylation profiles in patients' blood. Meta-analysis of data from the discovery and cross-validation set, each comprising 116 PDB cases and 130 controls, revealed significant differences in DNA methylation at 14 CpG sites, 4 CpG islands, and 6 gene-body regions. These loci, including two characterized as functional through expression quantitative trait-methylation analysis, were associated with functions related to osteoclast differentiation, mechanical loading, immune function, and viral infection. A multivariate classifier based on discovery samples was found to discriminate PDB cases and controls from the cross-validation with a sensitivity of 0.84, specificity of 0.81, and an area under curve of 92.8%. In conclusion, this study has shown for the first time that epigenetic factors contribute to the pathogenesis of PDB and may offer diagnostic markers for prediction of the disease.

Indexed as

Epigenesis, GeneticAgedAged, 80 and overCase-Control StudiesCell DifferentiationCohort StudiesDNA MethylationFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutationOsteitis DeformansOsteoclastsbonechromosomesepigeneticsgene expressiongeneticsgenomicshumanpaget's disease

Identifiers

PMID33929316
PMCPMC8184208
OpenAlexW3157524062

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.