Trait: type 1 diabetes mellitus

Trait Information
Identifier MONDO_0005147
Description A chronic condition characterized by minimal or absent production of insulin by the pancreas. [NCIT: C2986]
Trait categories
Digestive system disorder
Immune system disorder
Metabolic disorder
Synonyms 12 synonyms
  • IDDM
  • T1D
  • T1DM
  • diabetes mellitis type 1
  • diabetes mellitis type I
  • immune mediated diabetes
  • insulin dependent diabetes
  • insulin-dependent diabetes mellitus
  • juvenile diabetes
  • type 1 diabetes
  • type I diabetes
  • type I diabetes mellitus
Mapped terms 10 mapped terms
  • DOID:9744
  • MEDGEN:41522
  • MESH:D003922
  • NANDO:2200460
  • NCIT:C2986
  • OMIM:222100
  • Orphanet:243377
  • SCTID:46635009
  • UMLS:C0011854
  • icd11.foundation:1651053999

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
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)
PGS000021
(GRS1)
 PGP000011 |
Oram RA et al. Diabetes Care (2015)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 33
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000021/ScoringFiles/PGS000021.txt.gz
PGS000022
(T1D_GRS)
 PGP000012 |
Perry DJ et al. Sci Rep (2018)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 37
-
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000022/ScoringFiles/PGS000022.txt.gz
PGS000023
(AA_GRS)
 PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 7
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000023/ScoringFiles/PGS000023.txt.gz
PGS000024
(GRS2)
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 85
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000024/ScoringFiles/PGS000024.txt.gz
PGS000833
(T1D)
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 66
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000833/ScoringFiles/PGS000833.txt.gz
PGS000869
(T1D_48)
 PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 48
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000869/ScoringFiles/PGS000869.txt.gz
PGS001296
(GBE_HC648)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Insulin-dependent diabetes mellitus (time-to-event) type 1 diabetes mellitus 356
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001296/ScoringFiles/PGS001296.txt.gz
PGS001297
(GBE_HC337)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 69
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001297/ScoringFiles/PGS001297.txt.gz
PGS001817
(portability-PLR_250.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 825
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001817/ScoringFiles/PGS001817.txt.gz
PGS002025
(portability-ldpred2_250.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 106,800
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002025/ScoringFiles/PGS002025.txt.gz
PGS003749
(ModelT1D_under25)
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 6,612
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003749/ScoringFiles/PGS003749.txt.gz
PGS003750
(ModelT1D)
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 7,835
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003750/ScoringFiles/PGS003750.txt.gz
PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 63,182
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003993/ScoringFiles/PGS003993.txt.gz
PGS004009
(lassosum.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 4,031
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004009/ScoringFiles/PGS004009.txt.gz
PGS004020
(lassosum.CV.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 6,682
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004020/ScoringFiles/PGS004020.txt.gz
PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 56,562
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004035/ScoringFiles/PGS004035.txt.gz
PGS004063
(megaprs.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 56,288
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004063/ScoringFiles/PGS004063.txt.gz
PGS004078
(megaprs.CV.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 56,288
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004078/ScoringFiles/PGS004078.txt.gz
PGS004093
(prscs.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 61,651
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004093/ScoringFiles/PGS004093.txt.gz
PGS004102
(prscs.CV.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 61,651
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004102/ScoringFiles/PGS004102.txt.gz
PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 131
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004117/ScoringFiles/PGS004117.txt.gz
PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 354
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004132/ScoringFiles/PGS004132.txt.gz
PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 45,996
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004147/ScoringFiles/PGS004147.txt.gz
PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 62,645
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004162/ScoringFiles/PGS004162.txt.gz
PGS004171
(t1d_1)
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Type 1 diabetes type 1 diabetes mellitus 520
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004171/ScoringFiles/PGS004171.txt.gz
PGS004172
(t1d_2)
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Type 1 diabetes type 1 diabetes mellitus 70
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004172/ScoringFiles/PGS004172.txt.gz
PGS004173
(t1d_3)
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Type 1 diabetes type 1 diabetes mellitus 295
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004173/ScoringFiles/PGS004173.txt.gz
PGS004174
(t1d_4)
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Type 1 diabetes type 1 diabetes mellitus 49
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004174/ScoringFiles/PGS004174.txt.gz
PGS004175
(t1d_5)
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Type 1 diabetes type 1 diabetes mellitus 315
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004175/ScoringFiles/PGS004175.txt.gz
PGS004874
(INTERVENE_MegaPRS_T1D)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 56,916
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004874/ScoringFiles/PGS004874.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
PPM000132 PGS000021
(GRS1)
 PSS000083|
European Ancestry|
2,768 individuals
 PGP000038 |
Patel KA et al. Diabetes (2016)
|Ext.		 Reported Trait: Type 1 diabetes aetiology (non-monogenic) — AUROC: 0.87 [0.86, 0.89] — — Testing the ability of the GRS to discriminate between two sets of cases: - Positive: individuals with type 1 diabetes - Negative: individuals with diabetes and a maturity-onset diabetes of young (MODY) mutation
PPM000041 PGS000021
(GRS1)
 PSS000026|
European Ancestry|
223 individuals
 PGP000011 |
Oram RA et al. Diabetes Care (2015)
 Reported Trait: Severe insulin deficiency — AUROC: 0.96 [0.94, 0.99] AUROC (without covariates): 0.87 islet auto-antibody status, body mass index (BMI), age at diagnosis —
PPM000046 PGS000021
(GRS1)
 PSS000030|
African Ancestry|
3,949 individuals
 PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.798 — — —
PPM000049 PGS000021
(GRS1)
 PSS000032|
European Ancestry|
374,000 individuals
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.893 — — —
PPM000042 PGS000022
(T1D_GRS)
 PSS000029|
European Ancestry|
1,447 individuals
 PGP000012 |
Perry DJ et al. Sci Rep (2018)
 Reported Trait: Type 1 diabetes — AUROC: 0.8508 — — AUROCs are reported with respect to unrelated-control samples
PPM000043 PGS000022
(T1D_GRS)
 PSS000028|
Hispanic or Latin American Ancestry|
252 individuals
 PGP000012 |
Perry DJ et al. Sci Rep (2018)
 Reported Trait: Type 1 diabetes — AUROC: 0.9003 — — AUROCs are reported with respect to unrelated-control samples
PPM000044 PGS000022
(T1D_GRS)
 PSS000027|
African Ancestry|
299 individuals
 PGP000012 |
Perry DJ et al. Sci Rep (2018)
 Reported Trait: Type 1 diabetes — AUROC: 0.7522 — — AUROCs are reported with respect to unrelated-control samples
PPM000045 PGS000023
(AA_GRS)
 PSS000030|
African Ancestry|
3,949 individuals
 PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
 Reported Trait: Type 1 diabetes — AUROC: 0.87 — — NOTE: Evaluated using cross-validation on training samples (20% heldout, 1000 iterations)
PPM000047 PGS000023
(AA_GRS)
 PSS000031|
African Ancestry|
145 individuals
 PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
 Reported Trait: Type 1 diabetes — AUROC: 0.779 — — —
PPM018536 PGS000023
(AA_GRS)
 PSS011012|
Multi-ancestry (including European)|
39,820 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.781 — — —
PPM018537 PGS000023
(AA_GRS)
 PSS011009|
Multi-ancestry (including European)|
57,643 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.817 — — —
PPM018539 PGS000023
(AA_GRS)
 PSS011011|
European Ancestry|
16,663 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 97.0 %
PPV (reference): 86.0 %		 eMERGE type 1 diabetes algorithm —
PPM018541 PGS000023
(AA_GRS)
 PSS011010|
Multi-ancestry (excluding European)|
40,980 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 86.0 %
PPV (reference): 71.0 %		 eMERGE type 1 diabetes algorithm —
PPM018543 PGS000023
(AA_GRS)
 PSS011013|
Multi-ancestry (excluding European)|
4,881 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 83.0 %
PPV (reference): 53.0 %		 eMERGE type 1 diabetes algorithm —
PPM021725 PGS000023
(AA_GRS)
 PSS011762|
European Ancestry|
8,417 individuals
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
|Ext.		 Reported Trait: Type 1 diabetes mellitus OR: 2.31 [2.0, 2.68] AUROC: 0.77 — — —
PPM000048 PGS000024
(GRS2)
 PSS000032|
European Ancestry|
374,000 individuals
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
 Reported Trait: Type 1 diabetes — AUROC: 0.921 Youden index: 0.698 — —
PPM000753 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (5 years horizon time; landmark age 2 years) — AUROC: 0.93 — autoantibodies, family history —
PPM000754 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (8 years horizon time; landmark age 2 years) — AUROC: 0.87 — autoantibodies, family history —
PPM000755 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (5 years horizon time; landmark age 4 years) — AUROC: 0.96 — autoantibodies, family history —
PPM000751 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (1 year horizon time; landmark age 2 years) — AUROC: 0.96 — autoantibodies, family history —
PPM000752 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (3 years horizon time; landmark age 2 years) — AUROC: 0.94 — autoantibodies, family history —
PPM000750 PGS000024
(GRS2)
 PSS000368|
Ancestry Not Reported|
7,798 individuals
 PGP000091 |
Ferrat LA et al. Nat Med (2020)
|Ext.		 Reported Trait: Type 1 diabetes (by age 8; landmark age 2 years) — AUROC: 0.73 [0.7, 0.77] — — —
PPM002249 PGS000024
(GRS2)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
|Ext.		 Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.0 [0.93, 1.07] — — PC1-10 8 proxy variants were used to evaluate this score
PPM002250 PGS000024
(GRS2)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
|Ext.		 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.0 [0.93, 1.07] — — PC1-10 8 proxy variants were used to evaluate this score
PPM002251 PGS000024
(GRS2)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
|Ext.		 Reported Trait: Moderate Obesity-related Diabetes OR: 1.01 [0.95, 1.08] — — PC1-10 8 proxy variants were used to evaluate this score
PPM002252 PGS000024
(GRS2)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
|Ext.		 Reported Trait: Moderate Age-Related Diabetes OR: 0.99 [0.94, 1.04] — — PC1-10 8 proxy variants were used to evaluate this score
PPM002248 PGS000024
(GRS2)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
|Ext.		 Reported Trait: Severe Autoimmune Diabetes OR: 2.55 [2.28, 2.86] — — PC1-10 8 proxy variants were used to evaluate this score
PPM014801 PGS000024
(GRS2)
 PSS009895|
European Ancestry|
1,168 individuals
 PGP000338 |
Oram RA et al. Diabetes Care (2022)
|Ext.		 Reported Trait: Diabetes autoantibody positive insulin sensitive — AUROC: 0.864 [0.823, 0.905] — — —
PPM014803 PGS000024
(GRS2)
 PSS009893|
African Ancestry|
366 individuals
 PGP000338 |
Oram RA et al. Diabetes Care (2022)
|Ext.		 Reported Trait: Diabetes autoantibody positive insulin sensitive — AUROC: 0.851 [0.805, 0.897] — — —
PPM014805 PGS000024
(GRS2)
 PSS009894|
Hispanic or Latin American Ancestry|
412 individuals
 PGP000338 |
Oram RA et al. Diabetes Care (2022)
|Ext.		 Reported Trait: Diabetes autoantibody positive insulin sensitive — AUROC: 0.935 [0.906, 0.964] — — —
PPM014807 PGS000024
(GRS2)
 PSS009896|
Ancestry Not Reported|
99 individuals
 PGP000338 |
Oram RA et al. Diabetes Care (2022)
|Ext.		 Reported Trait: Diabetes autoantibody positive insulin sensitive — AUROC: 0.79 [0.679, 0.902] — — —
PPM018532 PGS000024
(GRS2)
 PSS011012|
Multi-ancestry (including European)|
39,820 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.875 — — —
PPM018533 PGS000024
(GRS2)
 PSS011009|
Multi-ancestry (including European)|
57,643 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.822 — — —
PPM018534 PGS000024
(GRS2)
 PSS011014|
European Ancestry|
34,939 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.888 — — —
PPM018535 PGS000024
(GRS2)
 PSS011014|
European Ancestry|
34,939 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.858 — — —
PPM018538 PGS000024
(GRS2)
 PSS011011|
European Ancestry|
16,663 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 100.0 %
PPV (reference): 86.0 %		 eMERGE type 1 diabetes algorithm —
PPM018540 PGS000024
(GRS2)
 PSS011010|
Multi-ancestry (excluding European)|
40,980 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 93.0 %
PPV (reference): 71.0 %		 eMERGE type 1 diabetes algorithm —
PPM018542 PGS000024
(GRS2)
 PSS011014|
European Ancestry|
34,939 individuals
 PGP000477 |
Deutsch AJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes — — PPV (+PRS): 97.0 %
PPV (reference): 71.0 %		 eMERGE type 1 diabetes algorithm —
PPM020098 PGS000024
(GRS2)
 PSS011295|
Ancestry Not Reported|
1,798 individuals
 PGP000519 |
Thomas NJ et al. Diabetes Care (2023)
|Ext.		 Reported Trait: Type 1 diabetes vs autoantibody negative T2D — — p-value (inferior to): 0.0001 — —
PPM021124 PGS000024
(GRS2)
 PSS011531|
European Ancestry|
9,465 individuals
 PGP000614 |
Qu HQ et al. Diabetes Obes Metab (2021)
|Ext.		 Reported Trait: Type 1 diabetes β: -0.22 AUROC: 0.87 — — —
PPM021125 PGS000024
(GRS2)
 PSS011532|
European Ancestry|
9,450 individuals
 PGP000614 |
Qu HQ et al. Diabetes Obes Metab (2021)
|Ext.		 Reported Trait: Type 1 diabetes β: -0.234 AUROC: 0.862 — — —
PPM002243 PGS000833
(T1D)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 1.39 [1.25, 1.54] — — PC1-10 —
PPM002246 PGS000833
(T1D)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 1.04 [0.97, 1.11] — — PC1-10 —
PPM002247 PGS000833
(T1D)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 1.02 [0.97, 1.07] — — PC1-10 —
PPM002244 PGS000833
(T1D)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.01 [0.94, 1.08] — — PC1-10 —
PPM002245 PGS000833
(T1D)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.03 [0.96, 1.11] — — PC1-10 —
PPM002414 PGS000869
(T1D_48)
 PSS001092|
Ancestry Not Reported|
5,740 individuals
 PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
 Reported Trait: Cystic-fibrosis related diabetes HR: 1.077 — — PCs(1-4), site of recruitment —
PPM008978 PGS001296
(GBE_HC648)
 PSS004570|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE insulin-dependent diabetes mellitus — AUROC: 0.66885 [0.62172, 0.71599] R²: 0.04054
Incremental AUROC (full-covars): -0.01128
PGS R2 (no covariates): 0.00021
PGS AUROC (no covariates): 0.51906 [0.4689, 0.56923]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008979 PGS001296
(GBE_HC648)
 PSS004571|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE insulin-dependent diabetes mellitus — AUROC: 0.89264 [0.80447, 0.98081] R²: 0.19006
Incremental AUROC (full-covars): -0.01413
PGS R2 (no covariates): 0.00422
PGS AUROC (no covariates): 0.43531 [0.15162, 0.71901]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008980 PGS001296
(GBE_HC648)
 PSS004572|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE insulin-dependent diabetes mellitus — AUROC: 0.70536 [0.66494, 0.74577] R²: 0.0607
Incremental AUROC (full-covars): 0.12077
PGS R2 (no covariates): 0.05496
PGS AUROC (no covariates): 0.68941 [0.64672, 0.73209]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008981 PGS001296
(GBE_HC648)
 PSS004573|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE insulin-dependent diabetes mellitus — AUROC: 0.67679 [0.6379, 0.71568] R²: 0.04266
Incremental AUROC (full-covars): -0.01593
PGS R2 (no covariates): 0.0016
PGS AUROC (no covariates): 0.54249 [0.49552, 0.58946]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008982 PGS001296
(GBE_HC648)
 PSS004574|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE insulin-dependent diabetes mellitus — AUROC: 0.65986 [0.63673, 0.68299] R²: 0.03385
Incremental AUROC (full-covars): 0.06785
PGS R2 (no covariates): 0.02496
PGS AUROC (no covariates): 0.62694 [0.60131, 0.65256]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008983 PGS001297
(GBE_HC337)
 PSS004457|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Type 1 diabetes — AUROC: 0.78146 [0.64554, 0.91738] R²: 0.08635
Incremental AUROC (full-covars): -0.05504
PGS R2 (no covariates): 0.00185
PGS AUROC (no covariates): 0.41884 [0.19064, 0.64704]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008984 PGS001297
(GBE_HC337)
 PSS004458|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Type 1 diabetes — AUROC: 0.79737 [0.708, 0.88674] R²: 0.11683
Incremental AUROC (full-covars): 0.09636
PGS R2 (no covariates): 0.0912
PGS AUROC (no covariates): 0.77118 [0.67108, 0.87128]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008985 PGS001297
(GBE_HC337)
 PSS004459|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Type 1 diabetes — AUROC: 0.81031 [0.66359, 0.95703] R²: 0.06825
Incremental AUROC (full-covars): -0.01908
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.53853 [0.37761, 0.69945]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008986 PGS001297
(GBE_HC337)
 PSS004460|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Type 1 diabetes — AUROC: 0.7643 [0.7041, 0.8245] R²: 0.06625
Incremental AUROC (full-covars): 0.19149
PGS R2 (no covariates): 0.06103
PGS AUROC (no covariates): 0.76543 [0.70744, 0.82342]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009436 PGS001817
(portability-PLR_250.1)
 PSS009287|
European Ancestry|
18,975 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0752 [0.061, 0.0893] sex, age, birth date, deprivation index, 16 PCs —
PPM009437 PGS001817
(portability-PLR_250.1)
 PSS009061|
European Ancestry|
3,954 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0684 [0.0372, 0.0994] sex, age, birth date, deprivation index, 16 PCs —
PPM009438 PGS001817
(portability-PLR_250.1)
 PSS008615|
European Ancestry|
6,300 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0739 [0.0493, 0.0985] sex, age, birth date, deprivation index, 16 PCs —
PPM009439 PGS001817
(portability-PLR_250.1)
 PSS008391|
Greater Middle Eastern Ancestry|
1,107 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0349 [-0.0246, 0.0941] sex, age, birth date, deprivation index, 16 PCs —
PPM009440 PGS001817
(portability-PLR_250.1)
 PSS008169|
South Asian Ancestry|
5,228 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0224 [-0.0047, 0.0496] sex, age, birth date, deprivation index, 16 PCs —
PPM009441 PGS001817
(portability-PLR_250.1)
 PSS007956|
East Asian Ancestry|
1,729 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): -0.0001 [-0.0475, 0.0474] sex, age, birth date, deprivation index, 16 PCs —
PPM009442 PGS001817
(portability-PLR_250.1)
 PSS007737|
African Ancestry|
2,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): -0.0006 [-0.0426, 0.0414] sex, age, birth date, deprivation index, 16 PCs —
PPM009443 PGS001817
(portability-PLR_250.1)
 PSS008840|
African Ancestry|
3,490 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): -0.0187 [-0.052, 0.0146] sex, age, birth date, deprivation index, 16 PCs —
PPM011074 PGS002025
(portability-ldpred2_250.1)
 PSS009287|
European Ancestry|
18,975 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0824 [0.0682, 0.0965] sex, age, birth date, deprivation index, 16 PCs —
PPM011075 PGS002025
(portability-ldpred2_250.1)
 PSS009061|
European Ancestry|
3,954 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0666 [0.0354, 0.0976] sex, age, birth date, deprivation index, 16 PCs —
PPM011076 PGS002025
(portability-ldpred2_250.1)
 PSS008615|
European Ancestry|
6,300 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0719 [0.0472, 0.0964] sex, age, birth date, deprivation index, 16 PCs —
PPM011077 PGS002025
(portability-ldpred2_250.1)
 PSS008391|
Greater Middle Eastern Ancestry|
1,107 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0529 [-0.0066, 0.112] sex, age, birth date, deprivation index, 16 PCs —
PPM011078 PGS002025
(portability-ldpred2_250.1)
 PSS008169|
South Asian Ancestry|
5,228 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0228 [-0.0044, 0.0499] sex, age, birth date, deprivation index, 16 PCs —
PPM011079 PGS002025
(portability-ldpred2_250.1)
 PSS007956|
East Asian Ancestry|
1,729 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): -0.0048 [-0.0522, 0.0427] sex, age, birth date, deprivation index, 16 PCs —
PPM011080 PGS002025
(portability-ldpred2_250.1)
 PSS007737|
African Ancestry|
2,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): 0.0089 [-0.0331, 0.0509] sex, age, birth date, deprivation index, 16 PCs —
PPM011081 PGS002025
(portability-ldpred2_250.1)
 PSS008840|
African Ancestry|
3,490 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Type 1 diabetes — — Partial Correlation (partial-r): -0.013 [-0.0463, 0.0203] sex, age, birth date, deprivation index, 16 PCs —
PPM018508 PGS003749
(ModelT1D_under25)
 PSS011001|
European Ancestry|
119,273 individuals
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Reported Trait: Type 1 diabetes with age of diagnosis under 25 — AUROC: 0.797 Nagelkerke R2: 0.099 — —
PPM018512 PGS003749
(ModelT1D_under25)
 PSS011000|
European Ancestry|
7,067 individuals
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Reported Trait: Discrimination of Type 1 diabetes from Type 2 diabetes — AUROC: 0.792 — — —
PPM018514 PGS003749
(ModelT1D_under25)
 PSS010998|
European Ancestry|
2,494 individuals
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Reported Trait: Discrimination of Type 1 diabetes from Type 2 diabetes — AUROC: 0.686 — — —
PPM018509 PGS003750
(ModelT1D)
 PSS010999|
European Ancestry|
120,028 individuals
 PGP000472 |
Shoaib M et al. Genet Epidemiol (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.64 Nagelkerke R2: 0.014 — —
PPM019950 PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.95715
β: 0.67149		 AUROC: 0.7 — 0 beta = log(or)/sd_pgs
PPM019951 PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.37817
β: 0.86633		 AUROC: 0.73 — 0 beta = log(or)/sd_pgs
PPM019952 PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.02806
β: 0.02768		 AUROC: 0.49 — 0 beta = log(or)/sd_pgs
PPM019953 PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.35954
β: 0.30715		 AUROC: 0.58 — 0 beta = log(or)/sd_pgs
PPM019954 PGS003993
(dbslmm.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.40714
β: 0.87844		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019995 PGS004009
(lassosum.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.95016
β: 0.66791		 AUROC: 0.7 — 0 beta = log(or)/sd_pgs
PPM019996 PGS004009
(lassosum.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.41964
β: 0.88362		 AUROC: 0.73 — 0 beta = log(or)/sd_pgs
PPM019997 PGS004009
(lassosum.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.02716
β: 0.0268		 AUROC: 0.51 — 0 beta = log(or)/sd_pgs
PPM019998 PGS004009
(lassosum.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.41112
β: 0.34438		 AUROC: 0.59 — 0 beta = log(or)/sd_pgs
PPM019999 PGS004009
(lassosum.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.32891
β: 0.8454		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019990 PGS004020
(lassosum.CV.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.96291
β: 0.67443		 AUROC: 0.7 — 0 beta = log(or)/sd_pgs
PPM019991 PGS004020
(lassosum.CV.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.44728
β: 0.89498		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019992 PGS004020
(lassosum.CV.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.02458
β: 0.02428		 AUROC: 0.51 — 0 beta = log(or)/sd_pgs
PPM019993 PGS004020
(lassosum.CV.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.42499
β: 0.35417		 AUROC: 0.59 — 0 beta = log(or)/sd_pgs
PPM019994 PGS004020
(lassosum.CV.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.34601
β: 0.85271		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019965 PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.32281
β: 0.84278		 AUROC: 0.71 — 0 beta = log(or)/sd_pgs
PPM019966 PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.04799
β: 0.71686		 AUROC: 0.69 — 0 beta = log(or)/sd_pgs
PPM019967 PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.00124
β: 0.00124		 AUROC: 0.51 — 0 beta = log(or)/sd_pgs
PPM019968 PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.41811
β: 0.34932		 AUROC: 0.58 — 0 beta = log(or)/sd_pgs
PPM019969 PGS004035
(ldpred2.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.67223
β: 0.98291		 AUROC: 0.75 — 0 beta = log(or)/sd_pgs
PPM019970 PGS004063
(megaprs.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.96796
β: 0.677		 AUROC: 0.69 — 0 beta = log(or)/sd_pgs
PPM019971 PGS004063
(megaprs.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.98877
β: 0.68752		 AUROC: 0.71 — 0 beta = log(or)/sd_pgs
PPM019972 PGS004063
(megaprs.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 0.99583
β: -0.00418		 AUROC: 0.51 — 0 beta = log(or)/sd_pgs
PPM019973 PGS004063
(megaprs.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.34209
β: 0.29422		 AUROC: 0.58 — 0 beta = log(or)/sd_pgs
PPM019974 PGS004063
(megaprs.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.32027
β: 0.84168		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019975 PGS004078
(megaprs.CV.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.10311
β: 0.74342		 AUROC: 0.69 — 0 beta = log(or)/sd_pgs
PPM019976 PGS004078
(megaprs.CV.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.14067
β: 0.76112		 AUROC: 0.71 — 0 beta = log(or)/sd_pgs
PPM019977 PGS004078
(megaprs.CV.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.00042
β: 0.00042		 AUROC: 0.5 — 0 beta = log(or)/sd_pgs
PPM019979 PGS004078
(megaprs.CV.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.67623
β: 0.98441		 AUROC: 0.76 — 0 beta = log(or)/sd_pgs
PPM019978 PGS004078
(megaprs.CV.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.39887
β: 0.33567		 AUROC: 0.59 — 0 beta = log(or)/sd_pgs
PPM019985 PGS004093
(prscs.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.96153
β: 0.67372		 AUROC: 0.69 — 0 beta = log(or)/sd_pgs
PPM019986 PGS004093
(prscs.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.44508
β: 0.89408		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019987 PGS004093
(prscs.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.0158
β: 0.01568		 AUROC: 0.5 — 0 beta = log(or)/sd_pgs
PPM019988 PGS004093
(prscs.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.42395
β: 0.35343		 AUROC: 0.59 — 0 beta = log(or)/sd_pgs
PPM019989 PGS004093
(prscs.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.39116
β: 0.87178		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019980 PGS004102
(prscs.CV.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.98839
β: 0.68733		 AUROC: 0.69 — 0 beta = log(or)/sd_pgs
PPM019981 PGS004102
(prscs.CV.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.45742
β: 0.89911		 AUROC: 0.74 — 0 beta = log(or)/sd_pgs
PPM019982 PGS004102
(prscs.CV.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 0.99231
β: -0.00772		 AUROC: 0.5 — 0 beta = log(or)/sd_pgs
PPM019983 PGS004102
(prscs.CV.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.42533
β: 0.3544		 AUROC: 0.59 — 0 beta = log(or)/sd_pgs
PPM019984 PGS004102
(prscs.CV.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.43145
β: 0.88849		 AUROC: 0.75 — 0 beta = log(or)/sd_pgs
PPM019940 PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.50723
β: 0.41027		 AUROC: 0.61 — 0 beta = log(or)/sd_pgs
PPM019941 PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.76472
β: 0.56799		 AUROC: 0.66 — 0 beta = log(or)/sd_pgs
PPM019942 PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.06976
β: 0.06744		 AUROC: 0.52 — 0 beta = log(or)/sd_pgs
PPM019943 PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.21972
β: 0.19862		 AUROC: 0.56 — 0 beta = log(or)/sd_pgs
PPM019944 PGS004117
(pt_clump.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.8907
β: 0.63695		 AUROC: 0.68 — 0 beta = log(or)/sd_pgs
PPM019945 PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.53997
β: 0.43176		 AUROC: 0.62 — 0 beta = log(or)/sd_pgs
PPM019946 PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.83108
β: 0.6049		 AUROC: 0.67 — 0 beta = log(or)/sd_pgs
PPM019947 PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.10378
β: 0.09874		 AUROC: 0.52 — 0 beta = log(or)/sd_pgs
PPM019948 PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.23285
β: 0.20933		 AUROC: 0.56 — 0 beta = log(or)/sd_pgs
PPM019949 PGS004132
(pt_clump_nested.CV.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.87052
β: 0.62622		 AUROC: 0.67 — 0 beta = log(or)/sd_pgs
PPM019956 PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.08691
β: 0.73568		 AUROC: 0.7 — 0 beta = log(or)/sd_pgs
PPM019957 PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 0.97765
β: -0.0226		 AUROC: 0.51 — 0 beta = log(or)/sd_pgs
PPM019958 PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.32037
β: 0.27791		 AUROC: 0.58 — 0 beta = log(or)/sd_pgs
PPM019959 PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.73561
β: 0.55136		 AUROC: 0.66 — 0 beta = log(or)/sd_pgs
PPM019955 PGS004147
(sbayesr.auto.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.62883
β: 0.48786		 AUROC: 0.63 — 0 beta = log(or)/sd_pgs
PPM019960 PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.35332
β: 0.85583		 AUROC: 0.72 — 0 beta = log(or)/sd_pgs
PPM019961 PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.27887
β: 0.82368		 AUROC: 0.72 — 0 beta = log(or)/sd_pgs
PPM019962 PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.0051
β: 0.00509		 AUROC: 0.5 — 0 beta = log(or)/sd_pgs
PPM019963 PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.43168
β: 0.35885		 AUROC: 0.58 — 0 beta = log(or)/sd_pgs
PPM019964 PGS004162
(UKBB_EnsPGS.GCST90013445.T1D)
 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 2.88687
β: 1.06017		 AUROC: 0.77 — 0 beta = log(or)/sd_pgs
PPM020104 PGS004171
(t1d_1)
 PSS011296|
European Ancestry|
45,334 individuals
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.7 — year of birth, sex —
PPM020105 PGS004172
(t1d_2)
 PSS011296|
European Ancestry|
45,334 individuals
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.71 — year of birth, sex —
PPM020106 PGS004173
(t1d_3)
 PSS011296|
European Ancestry|
45,334 individuals
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.71 — year of birth, sex —
PPM020107 PGS004174
(t1d_4)
 PSS011296|
European Ancestry|
45,334 individuals
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.71 — year of birth, sex —
PPM020108 PGS004175
(t1d_5)
 PSS011296|
European Ancestry|
45,334 individuals
 PGP000520 |
Raben TG et al. Sci Rep (2023)
 Reported Trait: Type 1 diabetes — AUROC: 0.7 — year of birth, sex —
PPM021179 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011637|
European Ancestry|
412,090 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 2.37 [2.31, 2.44] C-index: 0.77 [0.77, 0.78] — PCs 1-10 —
PPM021173 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011643|
European Ancestry|
447,332 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 2.11 [1.98, 2.24] — — PCs 1-10 —
PPM021174 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011642|
European Ancestry|
32,779 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 1.41 [1.17, 1.69] C-index: 0.69 [0.64, 0.74] — PCs 1-10 —
PPM021175 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011641|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 1.43 [1.28, 1.59] C-index: 0.64 [0.61, 0.67] — PCs 1-10 —
PPM021176 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011640|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 2.09 [1.91, 2.29] C-index: 0.75 [0.72, 0.78] — PCs 1-10 —
PPM021177 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011638|
European Ancestry|
44,187 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 1.05 [0.95, 1.15] — — PCs 1-10 —
PPM021178 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011639|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 1.56 [1.14, 2.12] C-index: 0.73 [0.67, 0.78] — PCs 1-10 —
PPM021180 PGS004874
(INTERVENE_MegaPRS_T1D)
 PSS011636|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident T1D HR: 1.64 [1.5, 1.79] C-index: 0.68 [0.65, 0.7] — PCs 1-10 —

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
PSS009287 — — 18,975 individuals — European UK (+ Ireland) UKB —
PSS008391 — — 1,107 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS000368 TEDDY children were followed prospectively from 3–4 months of age, with visits every 3 months until 4 years of age. Each evaluation tested the three islet antibodies (GADA, IA2A and IAA), changes in family history, as well as other measurements specified by the TEDDY protocol. After 4 years of age, children with any islet autoantibodies remained on quarterly visits, while antibody-negative children were evaluated every 6 months. Children were followed prospectively until 15 years of age or until T1D onset, as defined using the American Diabetes Association’s criteria for diagnosis (doi: 10.1196/annals.1447.062) Median = 9.3 years
Range = [0.0833, 14.0] years
[
  • 305 cases
  • , 7,493 controls
]
,
50.86 % Male samples
 Range = [3.0, 4.0] years NR — TEDDY From 2004–2010, 424,788 newborns were screened at six US and European centers for high-risk HLA genotypes. TEDDY then enrolled 8,676 eligible infants with the intent to follow them until 15 years of age. The three major eligible HLA DR–DQ haplotypes are DR3–DQA1*0501–DQB1*0201, DR4–DQA1*0301–DQB1*0302 and DR8–DQA1*0401–DQB1*0402.
PSS011277 — —
[
  • 201 cases
  • , 90,073 controls
]
 — European — UKB —
PSS000083 Cases were clinically diagnosed with T1D before 17 years of age and treated with insulin from diagnosis. Patients with known MODY or NDM were excluded. —
[
  • 1,963 cases
  • , 0 controls
]
 — European — WTCCC Cases with Type 1 Diabetes
PSS000083 MODY patients with a confirmed monogenic etiology on genetic testing (415 patients with HNF1A MODY, 346 with GCK MODY, 42 with HNF4A MODY, and 2 with HNF1B MODY). The median age of diagnosis was 20 years (interquartile range 15, 30), and 532 patients were female. —
[
  • 805 cases
  • , 0 controls
]
,
33.91 % Male samples
 — European — NR Maturity-onset diabetes of young (MODY) cases ascertained from the Genetic Βeta Cell Research Bank, Exeter, U.K.
PSS011636 — —
[
  • 497 cases
  • , 199,371 controls
]
 — European — EB —
PSS011531 Cases were individuals with T1D —
[
  • 3,299 cases
  • , 6,166 controls
]
,
53.51 % Male samples
 — European — NR —
PSS011532 Cases were individuals with T1D —
[
  • 3,293 cases
  • , 6,157 controls
]
,
53.79 % Male samples
 — European — NR —
PSS011637 — —
[
  • 4,310 cases
  • , 407,780 controls
]
 — European — FinnGen —
PSS011295 — — 1,798 individuals — Not reported — NR StartRight
PSS011641 — —
[
  • 342 cases
  • , 69,373 controls
]
 — European — HUNT —
PSS011642 — —
[
  • 103 cases
  • , 32,676 controls
]
 — European — MGBB —
PSS004570 — —
[
  • 119 cases
  • , 6,378 controls
]
 — African unspecified — UKB —
PSS004571 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004572 — —
[
  • 186 cases
  • , 24,719 controls
]
 — European non-white British ancestry UKB —
PSS004573 — —
[
  • 153 cases
  • , 7,678 controls
]
 — South Asian — UKB —
PSS004574 — —
[
  • 568 cases
  • , 66,857 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009061 — — 3,954 individuals — European Poland (NE Europe) UKB —
PSS010998 — —
[
  • 1,070 cases
  • , 1,424 controls
]
 — European — MGI —
PSS008169 — — 5,228 individuals — South Asian India (South Asia) UKB —
PSS011001 — —
[
  • 198 cases
  • , 119,075 controls
]
 — European — UKB —
PSS011000 — —
[
  • 953 cases
  • , 6,114 controls
]
 — European — UKB —
PSS010999 — —
[
  • 953 cases
  • , 119,075 controls
]
 — European — UKB —
PSS011296 22,667 sibling pairs — 45,334 individuals — European — UKB —
PSS004457 — —
[
  • 9 cases
  • , 6,488 controls
]
 — African unspecified — UKB —
PSS004458 — —
[
  • 33 cases
  • , 24,872 controls
]
 — European non-white British ancestry UKB —
PSS004459 — —
[
  • 7 cases
  • , 7,824 controls
]
 — South Asian — UKB —
PSS004460 — —
[
  • 58 cases
  • , 67,367 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011009 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 16,663 individuals,
48.0 % Male samples
 Mean = 51.9 years
Sd = 14.8 years		 European Self-identified race = White BioMe —
PSS011009 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 11,443 individuals,
39.0 % Male samples
 Mean = 48.4 years
Sd = 14.1 years		 African American or Afro-Caribbean Self-identified race = Black BioMe —
PSS011009 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 19,524 individuals,
37.0 % Male samples
 Mean = 50.3 years
Sd = 15.3 years		 Hispanic or Latin American Self-identified race = Hispanic BioMe —
PSS011009 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 10,013 individuals,
46.0 % Male samples
 Mean = 55.9 years
Sd = 13.9 years		 East Asian, South East Asian, Native American, South Asian, Other Self-identified race = Other BioMe —
PSS011010 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 11,443 individuals,
39.0 % Male samples
 Mean = 48.4 years
Sd = 14.1 years		 African American or Afro-Caribbean Self-identified race = Black BioMe —
PSS011010 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 19,524 individuals,
37.0 % Male samples
 Mean = 50.3 years
Sd = 15.3 years		 Hispanic or Latin American Self-identified race = Hispanic BioMe —
PSS011010 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 10,013 individuals,
46.0 % Male samples
 Mean = 55.9 years
Sd = 13.9 years		 East Asian, South East Asian, Native American, South Asian, Other Self-identified race = Other BioMe —
PSS011011 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 16,663 individuals,
48.0 % Male samples
 Mean = 51.9 years
Sd = 14.8 years		 European Self-identified race = White BioMe —
PSS011012 — — 34,939 individuals,
47.0 % Male samples
 Mean = 59.1 years
Sd = 16.9 years		 European Self-identified race = white MGBB —
PSS011012 — — 2,101 individuals,
37.0 % Male samples
 Mean = 52.1 years
Sd = 16.3 years		 African American or Afro-Caribbean
(Black)		 — MGBB —
PSS011012 — — 1,269 individuals,
34.0 % Male samples
 Mean = 46.4 years
Sd = 16.1 years		 Hispanic or Latin American
(Hispanic)		 — MGBB —
PSS011012 — — 1,511 individuals,
36.0 % Male samples
 Mean = 46.9 years
Sd = 16.3 years		 Native American, Asian unspecified, Oceanian, Other — MGBB —
PSS011013 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 2,101 individuals,
37.0 % Male samples
 Mean = 52.1 years
Sd = 16.3 years		 African American or Afro-Caribbean Self-identified race = Black MGBB —
PSS011013 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 1,269 individuals,
34.0 % Male samples
 Mean = 46.4 years
Sd = 16.1 years		 Hispanic or Latin American Self-identified race = Hispanic MGBB —
PSS011013 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 1,511 individuals,
36.0 % Male samples
 Mean = 46.9 years
Sd = 16.3 years		 Native American, Asian unspecified, Oceanian, Other Self-identified race = Other MGBB —
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls —
[
  • 1,125 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls —
[
  • 2,853 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls —
[
  • 1,372 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS011014 At each site, a trained medical reviewer performed manual record review for all individuals identified as having type 1 diabetes by the eMERGE algorithm. To confirm a diagnosis of type 1 diabetes, participants had to meet all of the following criteria, modified from (13): Diagnosis confirmed by an endocrinologist or primary care physician Current use of basal-bolus insulin or pump No secondary cause of diabetes listed in the medical record: gestational diabetes, checkpoint inhibitor use, glucocorticoid-induced diabetes, cystic fibrosis diagnosis, hemochromatosis, pancreatogenic diabetes, posttransplantation diabetes, maturity-onset diabetes of the young, or diagnosis of type 1.5 diabetes — 34,939 individuals,
47.0 % Male samples
 Mean = 59.1 years
Sd = 16.9 years		 European Self-identified race = White MGBB —
PSS008840 — — 3,490 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011638 — —
[
  • 434 cases
  • , 43,753 controls
]
 — European — G&H —
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls —
[
  • 450 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS011639 — —
[
  • 78 cases
  • , 6,940 controls
]
 — European — GS:SFHS —
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls —
[
  • 1,186 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001092 All individuals had cystic fibrosis with either 2 severe CFTR mutations and/or clinically diagnosed exocrine pancreatic insufficiency. Cases are individuals with cystic fibrosis related diabetes (CFRD).Phenotypes were obtained from extracted medical charts and CF Foundation Patient Registry through 2011. CFRD was defined by clinician diagnosis of diabetes plus insulin treatment for at least 1 year. The onset of CFRD was defined as the date at which insulin was started, if it was subsequently continued for at least 1 year. In approximately 50% of the participants, independent laboratory data (such as oral glucose tolerance test or hemoglobin A1c) were able to independently confirm the diagnosis of CFRD. Diabetes data were censored at the last clinic visit or date of solid organ transplant. —
[
  • 1,341 cases
  • , 4,399 controls
]
,
47.04 % Male samples
 Mean = 20.0 years Not reported — CGS, CWRU, FrGMC, JHU, UNC —
PSS007956 — — 1,729 individuals — East Asian China (East Asia) UKB —
PSS011762 — — 8,417 individuals — European — BBofA —
PSS011224 — —
[
  • 501 cases
  • , 198,773 controls
]
 — European — EB —
PSS011640 — —
[
  • 397 cases
  • , 29,030 controls
]
 — European — GEL —
PSS009893 — — 366 individuals — African American or Afro-Caribbean — SEARCH —
PSS009894 — — 412 individuals — Hispanic or Latin American — SEARCH —
PSS009895 — — 1,168 individuals — European — SEARCH —
PSS009896 — — 99 individuals — Not reported — SEARCH —
PSS011235 T1D, ICD10: E10, ICD9: 250[0|1]1 (exclude E11) —
[
  • 4,286 cases
  • , 318,063 controls
]
 — European — FinnGen —
PSS000026 Cases were defined on the presence or absence of severe insulin deficiency (requiring insulin treatment at 3 years after diagnosis). We cate- gorized people as severely insulin defi- cient if they received continuous insulin treatment at ,3 years from the time of diagnosis and had a low measured C-peptide level (nonfasting measured ,0.6 nmol/L or equivalent fasting blood glucose level or posthome meal urine C-peptide–to–creatinine ratio) —
[
  • 46 cases
  • , 177 controls
]
,
46.3 % Male samples
 — European — P2ID A cross-sectional cohort of people in whom diabetes was diagnosed between the ages of 20 and 40 years (n = 223), who had had diabetes for .3 years, and who had self-reported as white European from Devon and Cornwall in South West England. Known monogenic diabetes and secondary diabetes pa- tients were excluded.
PSS000027 Type 1 diabetes status was assigned according to clinician diagnosis. —
[
  • 84 cases
  • , 63 controls
]
,
33.78 % Male samples
 — African American or Afro-Caribbean — UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000028 Type 1 diabetes status was assigned according to clinician diagnosis. —
[
  • 65 cases
  • , 43 controls
]
,
44.84 % Male samples
 — Hispanic or Latin American Samples labeled Caucasian (Hispanic ethnicity) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000029 Type 1 diabetes status was assigned according to clinician diagnosis. —
[
  • 478 cases
  • , 290 controls
]
,
47.34 % Male samples
 — European Samples labeled Caucasian (non-Hispanic) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS008615 — — 6,300 individuals — European Italy (South Europe) UKB —
PSS011643 — —
[
  • 992 cases
  • , 446,340 controls
]
 — European — UKB —
PSS011248 — —
[
  • 443 cases
  • , 43,614 controls
]
 — South Asian — G&H —
PSS000030 — —
[
  • 1,021 cases
  • , 2,928 controls
]
 — African unspecified — 7 cohorts
  • BDC
  • ,CLEAR
  • ,GoKinD
  • ,NYCP
  • ,SEARCH
  • ,T1DGC
  • ,UAB
 —
PSS000031 Cases are diagnosed with type 1 diabetes. —
[
  • 61 cases
  • , 54 controls
]
 — African unspecified — UOF —
PSS000032 Type 1 Diabetes Case Definition = Clinical diagnosis of diabetes at less than or equal to 20 years of age; On insulin within 1 year from the time of diagnosis; Still on insulin at the time of recruit- ment; Not using oral antihyperglycemic agents; Did not ever self-report as having type 2 diabetes (T2D) —
[
  • 387 cases
  • , 373,613 controls
]
 — European — UKB —
PSS007737 — — 2,200 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011264 — —
[
  • 396 cases
  • , 66,469 controls
]
 — European — HUNT —