Evidence map›Paper›PMID 31964963›Full record

ArticleScientific reports2020

Pharmacological enrichment of polygenic risk for precision medicine in complex disorders.

William R Reay, Joshua R Atkins, Vaughan J Carr, Melissa J Green, Murray J Cairns

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05186623 (Establishment of Prediction Model of Biologics and Small Molecular Agent for Patients With Ulcerative Colitis Using Longitudinal Data), which is not on this map. Cited by 28 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 2 pooled it
5.8field-weighted citation impact, top 4% 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.

NCT05186623 recruitingnot on this mapstarted 2022, after this paper: background citation

Establishment of Prediction Model of Biologics and Small Molecular Agent for Patients With Ulcerative Colitis Using Longitudinal Data

Typeobservational_patient_registrySponsorAsan Medical CenterRan2022 to 2026Enrolled300ConditionsUlcerative ColitisArmsVedolizumab, Ustekinumab, or Tofacitinib
3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Improving polygenic prediction from whole-genome sequencing data by leveraging predicted epigenomic features.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  6. Review
  7. Article
  8. Observational
  9. Article
  10. Review
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  19. Drug repositioning: A bibliometric analysis.Frontiers in pharmacology · 2022
    Review
  20. 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

5 authors at 3 institutions in 1 country.

William R ReaySchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia.
Joshua R AtkinsSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia.
Vaughan J CarrSchool of Psychiatry, University of New South Wales, Randwick, NSW, Australia.
Melissa J GreenSchool of Psychiatry, University of New South Wales, Randwick, NSW, Australia.
Murray J CairnsSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia. Murray.cairns@newcastle.edu.au.
University of Newcastle Australia · AUUNSW Sydney · AUHunter Medical Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Individuals with complex disorders typically have a heritable burden of common variation that can be expressed as a polygenic risk score (PRS). While PRS has some predictive utility, it lacks the molecular specificity to be directly informative for clinical interventions. We therefore sought to develop a framework to quantify an individual's common variant enrichment in clinically actionable systems responsive to existing drugs. This was achieved with a metric designated the pharmagenic enrichment score (PES), which we demonstrate for individual SNP profiles in a cohort of cases with schizophrenia. A large proportion of these had elevated PES in one or more of eight clinically actionable gene-sets enriched with schizophrenia associated common variation. Notable candidates targeting these pathways included vitamins, antioxidants, insulin modulating agents, and cholinergic drugs. Interestingly, elevated PES was also observed in individuals with otherwise low common variant burden. The biological saliency of PES profiles were observed directly through their impact on gene expression in a subset of the cohort with matched transcriptomic data, supporting our assertion that this gene-set orientated approach could integrate an individual's common variant risk to inform personalised interventions, including drug repositioning, for complex disorders such as schizophrenia.

Indexed as

Antipsychotic AgentsBasic Helix-Loop-Helix ProteinsCohort StudiesDrug RepositioningEndothelial PAS Domain-Containing Protein 1Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePharmacogenomic TestingPolymorphism, Single NucleotidePrecision MedicineRisk FactorsSchizophreniaTranscriptomeAntipsychotic AgentsBasic Helix-Loop-Helix ProteinsEndothelial PAS Domain-Containing Protein 1

Identifiers

PMID31964963
PMCPMC6972917
OpenAlexW3003342977

What OpenQuestion holds

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Registered trials

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.