Evidence map›Paper›PMID 41795035›Full record

ArticleDiabetologia2026

Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes.

Basile Jumentier, Hui-Qi Qu, Tianyuan Lu, Kai Liu, Erica L Kleinbrink, Kathleen Klein, Wiame Belbellaj, Isabel Gamache, Lauric Ferrat, Guillaume Butler-Laporte and 6 more

Abstract readValidation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Diabetologia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

16 authors.

Basile JumentierResearch Center of the Sainte-Justine University Hospital, Université de Montréal, Montreal, QC, Canada.
Hui-Qi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tianyuan LuDepartment of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Kai LiuChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Center for Children's Health, Hangzhou, Zhejiang, China.
Erica L KleinbrinkLady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC, Canada.
Kathleen KleinLady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC, Canada.
Wiame BelbellajResearch Center of the Sainte-Justine University Hospital, Université de Montréal, Montreal, QC, Canada.
Isabel GamacheResearch Center of the Sainte-Justine University Hospital, Université de Montréal, Montreal, QC, Canada.
Lauric FerratFaculty of Medicine, Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
Guillaume Butler-LaporteDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Yangxi LiChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Center for Children's Health, Hangzhou, Zhejiang, China.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Wei WuChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Center for Children's Health, Hangzhou, Zhejiang, China.
Constantin PolychronakosEndocrine Genetics Laboratory, Research Institute of McGill University Health Centre, Montreal, QC, Canada.
Celia M T GreenwoodCenter for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.
Despoina ManousakiResearch Center of the Sainte-Justine University Hospital, Université de Montréal, Montreal, QC, Canada. Despina.manousaki@umontreal.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aims/hypothesisThe high heritability of type 1 diabetes has enabled the development of polygenic risk scores (PRSs) as disease risk screening tools. PRSs can identify individuals at the highest genetic risk in a population, who can benefit from autoantibody and metabolic surveillance, to avoid ketoacidosis at diagnosis and to access preventive therapies. However, PRSs for type 1 diabetes developed from European data perform less well in non-European ancestries. We aimed to develop a PRS with comparable performance among different ancestries.

methodsUsing the PRS-CSx method, and data from large European, East Asian, African American and Hispanic type 1 diabetes genome-wide association studies (N

resultsIn the multi-ancestry Montreal-based cohort, TA-PS showed an AUROC of 0.89 which was significantly higher than the respective measure obtained with GRS2x in the same population (AUROC of 0.85). We obtained better overall sensitivity at the 90th percentile cut-off using TA-PS (0.71 in Europeans, 0.77 in South Asians), compared with sensitivity of 0.32 in African Americans and 0.56 in Europeans using GRS2x. The specificity obtained using TA-PS was slightly lower than that of GRS2x, albeit still acceptable (≥0.83 across all ancestries). These results were validated in the four independent cohorts. CONCLUSIONS/

interpretationWe developed a trans-ancestry PRS that outperformed the European-based GRS2x. Importantly, TA-PS provides a comparable prediction in various ancestries, which supports its use in population-wide screening programmes.

Indexed as

Diabetes Mellitus, Type 1Multifactorial InheritanceBlack or African AmericanCase-Control StudiesEast Asian PeopleEuropean PeopleFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHispanic or LatinoHumansMalePolymorphism, Single NucleotideROC CurveWhite PeoplePolygenic risk scoreTrans-ancestralType 1 diabetes

Identifiers

PMID41795035
PMCPMC13109230

What Socratic holds

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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 Socratic graph.