Polygenic Score (PGS) ID: PGS000713

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Additional Trait Information Unadjusted weights
Released in PGS Catalog: Feb. 3, 2021
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Terms and Licenses
Creative Commons Attribution 4.0 International (CC BY 4.0)

Score Details

Score Construction
PGS Name T2D
Development Method
Name snpnet (multi-PRS)
Parameters Weighted combination of multiple biomarker PRS. 1,080,968 variants as input (directly genotyped vari... ants, imputed HLA allelotypes, and CNVs)Show more
Variants
Original Genome Build hg19
Number of Variants 183,830
Effect Weight Type weights.T2D
PGS Source
PGS Catalog Publication (PGP) ID PGP000128
Citation (link to publication) Sinnott-Armstrong N et al. Nat Genet (2021)
Ancestry Distribution
Score Development/Training
European: 100%
223,327 individuals (100%)
PGS Evaluation
European: 26.7%
African: 20%
East Asian: 20%
South Asian: 20%
Hispanic or Latin American: 6.7%
Additional Asian Ancestries: 6.7%
15 Sample Sets

Development Samples

Score Development/Training
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Phenotype Definitions & Methods
Age of Study Participants
Participant Follow-up Time
Additional Ancestry Description
Additional Sample/Cohort Information
223,327 individualsEuropean
(British)
UKBTraining
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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.

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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
PPM001605PSS000754|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Type 2 diabetesAUROC: 0.688Age, sex, PCs(1-10)
PPM001615PSS000756|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Type 2 diabetesHR: 1.49 [1.47, 1.51]C-index: 0.669Age as time scale, sex, batch, PCs(1-10)
PPM021420PSS011737|
European Ancestry|
109,021 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.63 [1.6, 1.67]AUROC: 0.712 [0.707, 0.717]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021449PSS011738|
European Ancestry|
38,941 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesHR: 1.74 [1.62, 1.88]C-index: 0.748 [0.732, 0.765]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021479PSS011735|
African Ancestry|
44,346 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.23 [1.2, 1.27]AUROC: 0.718 [0.711, 0.724]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021499PSS011736|
Hispanic or Latin American Ancestry|
33,652 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.46 [1.41, 1.51]AUROC: 0.762 [0.755, 0.769]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021524PSS011740|
East Asian Ancestry|
1,149 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesOR: 1.19 [1.02, 1.39]AUROC: 0.598 [0.554, 0.641]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021550PSS011741|
South Asian Ancestry|
852 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesOR: 0.91 [0.77, 1.08]AUROC: 0.643 [0.6, 0.686]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021574PSS011739|
Additional Asian Ancestries|
870 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesOR: 0.95 [0.8, 1.12]AUROC: 0.652 [0.608, 0.696]Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting)
PPM021587PSS011743|
African Ancestry|
6,871 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.31 [1.21, 1.42]AUROC: 0.714 [0.695, 0.734]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
PPM021597PSS011745|
East Asian Ancestry|
1,432 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.9 [1.48, 2.45]AUROC: 0.754 [0.7, 0.808]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
PPM021630PSS011749|
South Asian Ancestry|
6,992 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Type 2 diabetesOR: 1.59 [1.49, 1.7]AUROC: 0.721 [0.705, 0.736]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
PPM021654PSS011742|
African Ancestry|
6,019 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesHR: 1.12 [1.01, 1.23]C-index: 0.644 [0.617, 0.671]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
PPM021660PSS011744|
East Asian Ancestry|
1,350 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesHR: 1.74 [1.25, 2.41]C-index: 0.722 [0.646, 0.798]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
PPM021689PSS011748|
South Asian Ancestry|
5,685 individuals
PGP000656 |
Ritchie SC et al. medRxiv (2024)
|Ext.|Pre
Reported Trait: Incident type 2 diabetesHR: 1.26 [1.15, 1.37]C-index: 0.619 [0.596, 0.641]Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting)
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Evaluated Samples

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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
PSS00075487,413 individualsEuropeanUKB
PSS000756ICD-10 E11.0 - E11.9
[
  • 17,519 cases
  • , 117,781 controls
]
European
(Finnish)
FinnGen
PSS011735T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medicati... on, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysisShow more
[
  • 5,663 cases
  • , 38,683 controls
]
African unspecifiedAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsAllofUs
PSS011736T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medicati... on, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysisShow more
[
  • 4,033 cases
  • , 29,619 controls
]
Hispanic or Latin AmericanAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsAllofUs
PSS011737T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medicati... on, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysisShow more
[
  • 10,069 cases
  • , 98,952 controls
]
EuropeanAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsAllofUs
PSS011738T2D was defined using ICD-10 codes E10-E14, G59.0, G63.2, H28.0, H36.0, M14.2, N08.3, or O24.0-O24.3... . Participants with any diabetes history were excluded from analysis. Incident diabetes events were treated as incident T2DShow more
[
  • 726 cases
  • , 38,215 controls
]
EuropeanAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsINTERVAL
PSS011739Incident T2D was ascertained through a combination of linkage to national healthcare records, self-r... eported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L)Show more
[
  • 187 cases
  • , 683 controls
]
South East Asian
(Malay Singaporean)
Ancestry label assigned based on Malay being the majority reported ethnicity within the genetic clusterSingaporeMEC
PSS011740Incident T2D was ascertained through a combination of linkage to national healthcare records, self-r... eported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L)Show more
[
  • 205 cases
  • , 944 controls
]
East Asian
(Chinese Singaporean)
Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsSingaporeMEC
PSS011741Incident T2D was ascertained through a combination of linkage to national healthcare records, self-r... eported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L)Show more
[
  • 194 cases
  • , 658 controls
]
South Asian
(Indian Singaporean)
Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsSingaporeMEC
PSS011742Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 395 cases
  • , 5,624 controls
]
African unspecifiedAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
PSS011743Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 766 cases
  • , 6,105 controls
]
African unspecifiedAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
PSS011744Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 37 cases
  • , 1,313 controls
]
East AsianAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
PSS011745Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 76 cases
  • , 1,356 controls
]
East AsianAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
PSS011748Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 513 cases
  • , 5,172 controls
]
South AsianAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
PSS011749Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episod... e records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry dataShow more
[
  • 1,253 cases
  • , 5,739 controls
]
South AsianAncestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulationsUKB
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