| 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
|
| Mapped terms |
9 mapped terms
|
| 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 |
|
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] | — | — | — |
| 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] | — | — | — |
| 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 | — |
|
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 |
[ ,
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. | — | [
|
— | 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. | — | [ ,
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 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004571 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004572 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004573 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004574 | — | — | [
|
— | 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 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004458 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004459 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004460 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS001084 | Moderate Age-Related Diabetes (MARD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
| PSS001085 | Moderate Obesity-related Diabetes (MOD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
| PSS001086 | Severe Autoimmune Diabetes (SAID) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
| PSS001087 | Severe Insulin-Deficient Diabetes (SIDD) vs. controls | — | [
|
— | European | Swedish | ANDIS | — |
| PSS001088 | Severe Insulin-Resistant Diabetes (SIRD) vs. 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. | — | [ ,
47.04 % Male samples |
Mean = 20.0 years | Not reported | — | CGS, CWRU, FrGMC, JHU, UNC | — |
| 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 | — |
| 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) | — | [ ,
46.3 % 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. | — | [ ,
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. | — | [ ,
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. | — | [ ,
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 | — | — | [
|
— | African unspecified | — | 7 cohorts
|
— |
| PSS000031 | Cases are diagnosed with type 1 diabetes. | — | [
|
— | 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) | — | [
|
— | European | — | UKB | — |
| PSS007737 | — | — | 2,200 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |