Polygenic Score (PGS) ID: PGS004887

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: May 8, 2024
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name T2D_gePGS
Development Method
Name PRS-CS
Parameters PRS-CS-auto, 1000G European sample (N = 503) as the external LD reference panel
Variants
Original Genome Build GRCh37
Number of Variants 1,117,628
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000619
Citation (link to publication) Mandla R et al. Genome Med (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 82.1%
Multi-ancestry (excluding European): 13.3%
  • East Asian
  • South Asian
African: 3.4%
Hispanic or Latin American: 1.3%
1,632,019 individuals (100%)
Score Development/Training
European: 84%
Hispanic or Latin American: 6%
African: 4.9%
East Asian: 1.7%
Not Reported: 1.5%
South Asian: 1.1%
Greater Middle Eastern: 0.9%
53,555 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Hispanic or Latin American
  • African
  • East Asian
  • South Asian
  • Greater Middle Eastern
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Europe PMC: 36653562
224,737 individualsEuropeanFinnGen
GWAS Catalog: GCST010557
Europe PMC: 32541925
1,114,458 individualsEuropeanNR
GWAS Catalog: GCST010557
Europe PMC: 32541925
56,092 individualsAfrican American or Afro-CaribbeanNR
GWAS Catalog: GCST010557
Europe PMC: 32541925
20,445 individualsHispanic or Latin AmericanNR
GWAS Catalog: GCST010557
Europe PMC: 32541925
216,287 individualsEast Asian, South AsianNR
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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
—44,964 individualsEuropeanMGBB—————
—3,199 individualsHispanic or Latin AmericanMGBB—————
—2,628 individualsAfrican unspecifiedMGBB—————
—902 individualsEast AsianMGBB—————
—573 individualsSouth AsianMGBB—————
—464 individualsGreater Middle Eastern (Middle Eastern, North African or Persian)MGBB—————
—825 individualsNot reportedMGBB—————
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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
PPM021265PSS011671|
Multi-ancestry (including European)|
14,712 individuals
PGP000619 |
Mandla R et al. Genome Med (2024)
Reported Trait: Incident type 2 diabetes casesHR: 1.48 [1.4, 1.57]C-index: 0.816—first 10 ancestry PCs, age, sex, BMI, family history of T2D, systolic blood pressure, triglycerides,...  total cholesterol, and HDL combined into a clinical risk score and random glucoseShow more—
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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
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years12,508 individuals,
45.86 % Male samples
Mean = 48.9 yearsEuropean—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years1,003 individuals,
45.86 % Male samples
Mean = 48.9 yearsHispanic or Latin American—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years520 individuals,
45.86 % Male samples
Mean = 48.9 yearsAfrican unspecified—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years240 individuals,
45.86 % Male samples
Mean = 48.9 yearsEast Asian—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years117 individuals,
45.86 % Male samples
Mean = 48.9 yearsSouth Asian—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years125 individuals,
45.86 % Male samples
Mean = 48.9 yearsGreater Middle Eastern (Middle Eastern, North African or Persian)—MGBB—
PSS011671Inclusion: MGH encounter AND ICD-9 code for diabetes AND Problem list term for diabetes OR HbA1C >... ;6.5 in prior 3 years Exclusion: Problem list term not associated with diabetes; Inclusion problem list terms: DM, Diabetes Mellitus, Diabetic Nephropathy, Diabetic Neuropathy, Diabetic Retinopathy, Diabetic foot care, Diabetic foot infection, Diabetes Mellitus without complication, Insulin dependent diabetes mellitus, Insulin dependent diabetes without complications, Type 1, Diabetes mellitus I, DM type I, Juvenile, DM type i, Type I DM, Diabetes Mellitus type 1, Juvenile onset diabetes mellitus, Type 1 diabetes mellitus uncontrolled, Type 1 diabetes mellitus well controlled, DM1, Adult onset, AODM, Type 2, DM type ii, Diabetes mellitus ii, DMii, Type 2 DM, Type ii DM, Diabetes mellitus type 2, noninsulin dependent diabetes mellitus, Type 2 diabetes mellitus uncontrolled, Type 2 diabetes mellitus well controlled, Diabetes adult-adult onset, NIDDM.; Inclusion ICD-9 codes: 250.21, 250.23, 250.11, 250.13, 250.61, 250.63, 250.51, 250.53, 250.31, 250.33, 250.81, 250.83, 250.71, 250.73, 250.41, 250.43, 250.91, 250.93, 250.01, 250.03, 250.20, 250.22, 250.10, 250.12, 250.60, 250.62, 250.50, 250.52, 250.30, 250.32, 250.80, 250.82, 250.70, 250.72, 250.40, 250.42, 250.90, 250.92, 250.00, 250.02; Exclusion problem list terms: negative, neg, r/o, risk, rule out, no, consider diabetes, borderline, gestational, maternal, pregnancy, glucose impai, impaired glucose, insipidus, pre diabetes, prediab, family history, PCOS, Polycystic Ovary SyndromeShow moreMedian = 13.9 years199 individuals,
45.86 % Male samples
Mean = 48.9 yearsNot reported—MGBB—
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