Evidence map›Paper›PMID 38136989›Full record

ReviewGenes2023

The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective.

Lotta M Vaskimo, Georgy Gomon, Najib Naamane, Heather J Cordell, Arthur Pratt, Rachel Knevel

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Review
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

6 authors at 3 institutions in 2 countries.

Lotta M VaskimoDepartment of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Georgy GomonDepartment of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Najib NaamanePopulation Health Sciences Institute, Newcastle University, Newcastle upon Tyne NE2 4AX, UK.
Heather J CordellPopulation Health Sciences Institute, Newcastle University, Newcastle upon Tyne NE2 4AX, UK.
Arthur PrattTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.ORCID 0000-0002-9909-8209
Rachel KnevelDepartment of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-7494-3023
Leiden University Medical Center · NLNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

European Union 101080711Zonmw Open Competitive 09120012110075
6 · The paper itself

Abstract

Modest effect sizes have limited the clinical applicability of genetic associations with rheumatic diseases. Genetic risk scores (GRSs) have emerged as a promising solution to translate genetics into useful tools. In this review, we provide an overview of the recent literature on GRSs in rheumatic diseases. We describe six categories for which GRSs are used: (a) disease (outcome) prediction, (b) genetic commonalities between diseases, (c) disease differentiation, (d) interplay between genetics and environmental factors, (e) heritability and transferability, and (f) detecting causal relationships between traits. In our review of the literature, we identified current lacunas and opportunities for future work. First, the shortage of non-European genetic data restricts the application of many GRSs to European populations. Next, many GRSs are tested in settings enriched for cases that limit the transferability to real life. If intended for clinical application, GRSs are ideally tested in the relevant setting. Finally, there is much to elucidate regarding the co-occurrence of clinical traits to identify shared causal paths and elucidate relationships between the diseases. GRSs are useful instruments for this. Overall, the ever-continuing research on GRSs gives a hopeful outlook into the future of GRSs and indicates significant progress in their potential applications.

Indexed as

Genetic Predisposition to DiseaseRheumatic DiseasesGenetic Risk ScoreHumansPhenotypeRisk Factorsclinical applicabilitygenetic risk score (GRS)geneticsperspectiverheumatic diseases

Identifiers

PMID38136989
PMCPMC10743278
OpenAlexW4389226112

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.