| Predicted Trait | |
| Reported Trait | Type 1 diabetes (T1D) |
| Mapped Trait(s) | type 1 diabetes mellitus (MONDO_0005147) |
| Score Construction | |
| PGS Name | AA_GRS |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | NR |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 7 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000013 |
| Citation (link to publication) | Onengut-Gumuscu S et al. Diabetes Care (2019) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | African: 100% 3,949 individuals (100%) |
| PGS Evaluation | |
Study Identifiers
|
Sample Numbers
|
Sample Ancestry
|
Cohort(s)
|
|---|---|---|---|
Europe PMC: 30659077 | [ ,
40.59 % Male samples | African unspecified | BDC |
Europe PMC: 30659077 | [ ,
28.5 % Male samples | African unspecified | CLEAR |
Europe PMC: 30659077 | [ ,
41.5 % Male samples | African unspecified | GoKinD |
Europe PMC: 30659077 | [ ,
21.6 % Male samples | African unspecified | NYCP |
Europe PMC: 30659077 | [ ,
43.9 % Male samples | African unspecified | SEARCH |
Europe PMC: 30659077 | [ ,
35.66 % Male samples | African unspecified | T1DGC |
Europe PMC: 30659077 | [ ,
26.7 % Male samples | African unspecified | UAB |
Europe PMC: 30659077 | [ ,
34.6 % Male samples | African unspecified | UCSF |
PGS Performance Metric ID (PPM) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000045 | 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 | PSS000031| African Ancestry| 145 individuals | PGP000013 | Onengut-Gumuscu S et al. Diabetes Care (2019) | Reported Trait: Type 1 diabetes | — | AUROC: 0.779 | — | — | — |
| PPM018536 | 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 | 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 | 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 | 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 | 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 | 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 | — | — | — |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS000030 | — | — | [
| — | African unspecified | — | 7 cohorts
| — |
| PSS000031 | Cases are diagnosed with type 1 diabetes. | — | [
| — | African unspecified | — | UOF | — |
| PSS011009 | At each site, a trained medical reviewer performed manual record review for all individuals identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 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 identifi... ed 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 diabetesShow more | — | 16,663 individuals, 48.0 % Male samples | Mean = 51.9 years Sd = 14.8 years | European | Self-identified race = White | BioMe | — |
| PSS011012 | — | — | 1,511 individuals, 36.0 % Male samples | Mean = 46.9 years Sd = 16.3 years | Native American, Asian unspecified, Oceanian, Other | — | MGBB | — |
| 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 | — |
| PSS011013 | At each site, a trained medical reviewer performed manual record review for all individuals identifi... ed 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 diabetesShow more | — | 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 | — |