PGS Publication: PGP000781

Publication Information (EuropePMC)
Title Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis.
PubMed ID 41724362(Europe PMC)
doi 10.1016/j.diabres.2026.113181
Publication Date Feb. 20, 2026
Journal Diabetes Res Clin Pract
Author(s) Qu HQ, Ostberg K, Slater DJ, Wang F, Snyder J, Hou C, Connolly JJ, March M, Glessner JT, Kao C, Hakonarson H.
Released in PGS Catalog: Feb. 26, 2026

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005398
(T1D_PRS_combined)
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 645,391
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005398/ScoringFiles/PGS005398.txt.gz
PGS005400
(T1D_PRS_female)
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 128,279
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005400/ScoringFiles/PGS005400.txt.gz
PGS005399
(T1D_PRS_male)
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 264,227
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005399/ScoringFiles/PGS005399.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM023441 PGS005398
(T1D_PRS_combined)
 PSS012186|
European Ancestry|
2,771 individuals
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Reported Trait: Type 1 diabetes diagnosis OR: 1.586 [1.42, 1.771] AUROC: 0.629 [0.6, 0.658] — — —
PPM023442 PGS005399
(T1D_PRS_male)
 PSS012188|
European Ancestry|
1,435 individuals
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Reported Trait: Type 1 diabetes diagnosis OR: 1.896 [1.627, 2.21] AUROC: 0.668 [0.629, 0.707] delta AUC (sex‑specific-all‑samples): 0.0444 [0.0341, 0.0546] — DeLong's test (2‑correlated ROC curves): Z = -8.4547, p < 2.2 × 10⁻¹⁶ ; Bootstrap test (2,000 stratified replicates): D = -8.3838, p < 2.2 × 10⁻¹⁶
PPM023443 PGS005400
(T1D_PRS_female)
 PSS012187|
European Ancestry|
1,336 individuals
 PGP000781 |
Qu HQ et al. Diabetes Res Clin Pract (2026)
 Reported Trait: Type 1 diabetes diagnosis OR: 2.316 [1.962, 2.732] AUROC: 0.719 [0.682, 0.756] delta AUC (sex‑specific-all‑samples): 0.084 [0.0646, 0.1035] — DeLong's test (2‑correlated ROC curves): Z = -8.4667, p < 2.2 × 10⁻¹⁶; Bootstrap test (2,000 stratified replicates): D = -8.3857, p < 2.2 × 10⁻¹⁶

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012186 Type 1 diabetes, diagnosed by physician; cases confirmed through clinical criteria at CHOP. ICD-10 code E10 used where available. —
[
  • 471 cases
  • , 2,300 controls
]
,
51.7 % Male samples
 — European — CHOP Independent validation cohort recruited through the Children's Hospital of Philadelphia (CHOP). No overlap with discovery GWAS samples.
PSS012187 Type 1 diabetes, diagnosed by physician; cases confirmed through clinical criteria at CHOP. ICD-10 code E10 used where available. —
[
  • 229 cases
  • , 1,107 controls
]
,
0.0 % Male samples
 — European — CHOP Independent validation cohort recruited through the Children's Hospital of Philadelphia (CHOP). No overlap with discovery GWAS samples.
PSS012188 Type 1 diabetes, diagnosed by physician; cases confirmed through clinical criteria at CHOP. ICD-10 code E10 used where available. —
[
  • 242 cases
  • , 1,193 controls
]
,
100.0 % Male samples
 — European — CHOP Independent validation cohort recruited through the Children's Hospital of Philadelphia (CHOP). No overlap with discovery GWAS samples.