Evidence map›Paper›PMID 33722698›Full record

ReviewOsteoarthritis and cartilage2022

Genetics of osteoarthritis.

G Aubourg, S J Rice, P Bruce-Wootton, J Loughlin

Open access · hybridAbstract readReview
In one paragraph

Review in Osteoarthritis and cartilage, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
87citing papers in PubMed, 4 pooled it
22.6field-weighted citation impact, top 1% 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

87 citing papers in PubMed, 4 syntheses or guidelines pooled it, 149 citations in OpenAlex.

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27 more citing papers are in PubMed but not listed here.

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 1 institution in 1 country.

G AubourgBiosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.
S J RiceBiosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.
P Bruce-WoottonBiosciences Institute, Newcastle University, Newcastle Upon Tyne, UK.
J LoughlinBiosciences Institute, Newcastle University, Newcastle Upon Tyne, UK. Electronic address: john.loughlin@newcastle.ac.uk.
Newcastle University · GB

Funding

Medical Research Council JXR 10641Medical Research Council MR/P020941/1Medical Research Council MR/R502182/1Versus Arthritis 20771
6 · The paper itself

Abstract

Osteoarthritis genetics has been transformed in the past decade through the application of large-scale genome-wide association scans. So far, over 100 polymorphic DNA variants have been associated with this common and complex disease. These genetic risk variants account for over 20% of osteoarthritis heritability and the vast majority map to non-protein coding regions of the genome where they are presumed to act by regulating the expression of target genes. Statistical fine mapping, in silico analyses of genomics data, and laboratory-based functional studies have enabled the identification of some of these targets, which encode proteins with diverse roles, including extracellular signaling molecules, intracellular enzymes, transcription factors, and cytoskeletal proteins. A large number of the risk variants correlate with epigenetic factors, in particular cartilage DNA methylation changes in cis, implying that epigenetics may be a conduit through which genetic effects on gene expression are mediated. Some of the variants also appear to have been selected as humans adapted to bipedalism, suggesting that a proportion of osteoarthritis genetic susceptibility results from antagonistic pleiotropy, with risk variants having a positive role in joint formation but a negative role in the long-term health of the joint. Although data from an osteoarthritis genetic study has not yet directly led to a novel treatment, some of the osteoarthritis associated genes code for proteins that have available therapeutics. Genetic investigations are therefore revealing fascinating fundamental insights into osteoarthritis and can expose options for translational intervention.

Indexed as

Genome-Wide Association StudyOsteoarthritisDNA MethylationEpigenomicsGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideDNA methylationEpigeneticsFunctional analysisGeneticsGWASSNPs

Identifiers

PMID33722698
PMCPMC9067452
OpenAlexW3137031299

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.