Evidence map›Paper›PMID 37439792›Full record

ReviewDiabetologia2023

Utility of genetic risk scores in type 1 diabetes.

Amber M Luckett, Michael N Weedon, Gareth Hawkes, R David Leslie, Richard A Oram, Struan F A Grant

Open access · hybridAbstract readReview
In one paragraph

Review in Diabetologia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
22.5field-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

50 citing papers in PubMed, 72 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Towards primary prevention of multiple sclerosis.Nature reviews. Neurology · 2026
    Review
  9. Article
  10. Article
  11. Observational
  12. Article
  13. Article
  14. Review
  15. Review
  16. Review
  17. Genetic risk in extremely early onset type 1 diabetes.medRxiv : the preprint server for health sciences · 2025
    Article
  18. Article
  19. 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

6 authors at 3 institutions in 2 countries.

Amber M LuckettUniversity of Exeter College of Medicine and Health, Exeter, UK.ORCID http://orcid.org/0000-0001-9496-3796
Michael N WeedonUniversity of Exeter College of Medicine and Health, Exeter, UK.ORCID http://orcid.org/0000-0002-6174-6135
Gareth HawkesUniversity of Exeter College of Medicine and Health, Exeter, UK.ORCID http://orcid.org/0000-0002-3367-789X
R David LeslieBlizard Institute, Queen Mary University of London, London, UK. r.d.g.leslie@qmul.ac.uk.ORCID http://orcid.org/0000-0002-1786-1531
Richard A OramUniversity of Exeter College of Medicine and Health, Exeter, UK. R.Oram@exeter.ac.uk.ORCID http://orcid.org/0000-0003-3581-8980
Struan F A GrantDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. grants@chop.edu.ORCID http://orcid.org/0000-0003-2025-5302
University of Exeter · GBChildren's Hospital of Philadelphia · USQueen Mary University of London · GB

Funding

Genome Wide Association Study for Childhood ObesityR01HD056465 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2008 to 2024
$9.5M
Functional Interrogation of T2D-associated genes in human stem cell-derived models and miceUM1DK126194 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI GRANT, STRUAN F A, KAESTNER, KLAUS H · 2020 to 2024
$8.8M
Functional Mechanisms of T1D Risk Variants and their Target Genes using 3D Epigenomics and Single Cell ApproachesR01DK122586 · NIDDK · UNIVERSITY OF VIRGINIA · PI GRANT, STRUAN F A, RICH, STEPHEN S. · 2019 to 2022
$4.8M
Type 1 Diabetes Genetic Risk Score in TrialNetR01DK121843 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI REDONDO, MARIA JOSE · 2019 to 2023
$2.4M
Indiana University clinical Center for acute pancreatitis and diabetes clinical research networkU01DK127382 · NIDDK · INDIANA UNIVERSITY INDIANAPOLIS · PI Carmella Evans-Molina, Evan L Fogel · 2020 to 2026
$2.4M
Department of HealthDiabetes UK Harry Keen Fellowship 16/0005529Medical Research Council MC_PC_19037NICHD NIH HHS R01 HD056465NIDDK NIH HHS NIH R01 DK121843-01NIDDK NIH HHS R01 DK121843NIDDK NIH HHS R01 DK122586NIDDK NIH HHS U01 DK127382NIDDK NIH HHS U01DK127382-01NIDDK NIH HHS UM1 DK126194
6 · The paper itself

Abstract

Iterative advances in understanding of the genetics of type 1 diabetes have identified >70 genetic regions associated with risk of the disease, including strong associations across the HLA class II region that account for >50% of heritability. The increased availability of genetic data combined with the decreased costs of generating these data, have facilitated the development of polygenic scores that aggregate risk variants from associated loci into a single number: either a genetic risk score (GRS) or a polygenic risk score (PRS). PRSs incorporate the risk of many possibly correlated variants from across the genome, even if they do not reach genome-wide significance, whereas GRSs estimate the cumulative contribution of a smaller subset of genetic variants that reach genome-wide significance. Type 1 diabetes GRSs have utility in diabetes classification, aiding discrimination between type 1 diabetes, type 2 diabetes and MODY. Type 1 diabetes GRSs are also being used in newborn screening studies to identify infants at risk of future presentation of the disease. Most early studies of type 1 diabetes genetics have been conducted in European ancestry populations, but, to develop accurate GRSs across diverse ancestries, large case-control cohorts from non-European populations are still needed. The current barriers to GRS implementation within healthcare are mainly related to a lack of guidance and knowledge on integration with other biomarkers and clinical variables. Once these limitations are addressed, there is huge potential for 'test and treat' approaches to be used to tailor care for individuals with type 1 diabetes.

Indexed as

Diabetes Mellitus, Type 1Diabetes Mellitus, Type 2BiomarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfant, NewbornRisk FactorsBiomarkersAutoimmune disordersDiabetesGenetic risk scoreGeneticsReviewType 1 diabetes

Identifiers

PMID37439792
PMCPMC10390619
OpenAlexW4384126579

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.