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 10 synonyms
  • IDDM
  • 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 7 mapped terms
  • DOID:9744
  • EFO:0001359
  • KEGG:04940
  • MESH:D003922
  • NCIT:C2986
  • Orphanet:243377
  • SCTID:46635009

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 Scoring File (FTP Link)
PGS000021
(GRS1)
PGP000011 |
Oram RA et al. Diabetes Care (2015)
Type 1 diabetes type 1 diabetes mellitus 30
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 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 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 type 1 diabetes mellitus 67
-
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 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 I diabetes 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 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 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 type 1 diabetes mellitus 106,800
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002025/ScoringFiles/PGS002025.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
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]
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
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
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
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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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

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.
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.
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
PSS008169 5,228 individuals South Asian India (South Asia) 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)
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
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls
[
  • 450 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls
[
  • 1,186 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls
[
  • 1,125 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS008840 3,490 individuals African unspecified Nigeria (West Africa) UKB
PSS007956 1,729 individuals East Asian China (East Asia) UKB
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
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
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