Polygenic Score (PGS) ID: PGS000804

Predicted Trait
Reported Trait Type 2 diabetes
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: June 11, 2021
Download Score FTP directory
Terms and Licenses
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Score Details

Score Construction
PGS Name GRS582_T2Dmulti
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build NR
Number of Variants 582
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000193
Citation (link to publication) Polfus LM et al. HGG Adv (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 79.2%
Multi-ancestry (excluding European): 15.4%
  • East Asian
  • South Asian
African: 4%
Hispanic or Latin American: 1.5%
2,814,564 individuals (100%)
PGS Evaluation
African: 20%
Hispanic or Latin American: 20%
Additional Asian Ancestries: 20%
European: 20%
Additional Diverse Ancestries: 20%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010557
Europe PMC: 32541925
1,114,458 individuals European 32 cohorts
  • BBJ
  • ,DGDG
  • ,DGI
  • ,EGCUT
  • ,FHS
  • ,FUSION
  • ,GCKD
  • ,GENOA
  • ,GERA
  • ,GOMAP
  • ,GoDARTS
  • ,HPFS
  • ,InterAct
  • ,KORA
  • ,MDC
  • ,MESA
  • ,METSIM
  • ,MGI
  • ,MVP
  • ,MedSTAR
  • ,NHS
  • ,Nugene
  • ,PIVUS
  • ,PMB
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,UKB
  • ,ULSAM
  • ,UPCH
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST010557
Europe PMC: 32541925
56,092 individuals African American or Afro-Caribbean 32 cohorts
  • BBJ
  • ,DGDG
  • ,DGI
  • ,EGCUT
  • ,FHS
  • ,FUSION
  • ,GCKD
  • ,GENOA
  • ,GERA
  • ,GOMAP
  • ,GoDARTS
  • ,HPFS
  • ,InterAct
  • ,KORA
  • ,MDC
  • ,MESA
  • ,METSIM
  • ,MGI
  • ,MVP
  • ,MedSTAR
  • ,NHS
  • ,Nugene
  • ,PIVUS
  • ,PMB
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,UKB
  • ,ULSAM
  • ,UPCH
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST010557
Europe PMC: 32541925
20,445 individuals Hispanic or Latin American 32 cohorts
  • BBJ
  • ,DGDG
  • ,DGI
  • ,EGCUT
  • ,FHS
  • ,FUSION
  • ,GCKD
  • ,GENOA
  • ,GERA
  • ,GOMAP
  • ,GoDARTS
  • ,HPFS
  • ,InterAct
  • ,KORA
  • ,MDC
  • ,MESA
  • ,METSIM
  • ,MGI
  • ,MVP
  • ,MedSTAR
  • ,NHS
  • ,Nugene
  • ,PIVUS
  • ,PMB
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,UKB
  • ,ULSAM
  • ,UPCH
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST010557
Europe PMC: 32541925
216,287 individuals East Asian,South Asian 32 cohorts
  • BBJ
  • ,DGDG
  • ,DGI
  • ,EGCUT
  • ,FHS
  • ,FUSION
  • ,GCKD
  • ,GENOA
  • ,GERA
  • ,GOMAP
  • ,GoDARTS
  • ,HPFS
  • ,InterAct
  • ,KORA
  • ,MDC
  • ,MESA
  • ,METSIM
  • ,MGI
  • ,MVP
  • ,MedSTAR
  • ,NHS
  • ,Nugene
  • ,PIVUS
  • ,PMB
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,UKB
  • ,ULSAM
  • ,UPCH
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST010556
Europe PMC: 32541925
56,092 individuals African American or Afro-Caribbean MVP, PMB
GWAS Catalog: GCST010555
Europe PMC: 32541925
1,114,458 individuals European 32 cohorts
  • BioMe
  • ,DGDG
  • ,DGI
  • ,EGCUT
  • ,FHS
  • ,FUSION
  • ,GCKD
  • ,GENOA
  • ,GERA
  • ,GOMAP
  • ,GoDARTS
  • ,HPFS
  • ,InterAct
  • ,KORA
  • ,MDC
  • ,MESA
  • ,METSIM
  • ,MGI
  • ,MVP
  • ,MedSTAR
  • ,NHS
  • ,Nugene
  • ,PIVUS
  • ,PMB
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,UKB
  • ,ULSAM
  • ,UPCH
  • ,WTCCC
  • ,deCODE
GWAS Catalog: GCST010554
Europe PMC: 32541925
20,445 individuals Hispanic or Latin American MVP
GWAS Catalog: GCST010553
Europe PMC: 32541925
216,287 individuals East Asian,South Asian BBJ, MVP, PGR

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)
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
PPM002117 PSS001044|
African Ancestry|
15,609 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.568 [0.5588, 0.5772] Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002119 PSS001046|
European Ancestry|
423,729 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.825 [0.8222, 0.8279] Odds Ratio (OR, top 10% vs middle 20%): 2.94 [2.8, 3.08] Age, sex, body mass index, PCs(1-10) Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002121 PSS001046|
European Ancestry|
423,729 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6586 [0.6547, 0.6624] Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002123 PSS001047|
Hispanic or Latin American Ancestry|
20,486 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.7293 [0.721, 0.7376] Odds Ratio (OR, top 10% vs middle 20%): 2.39 [2.1, 2.73] Age, sex, body mass index, study, PCs(1-10) Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002125 PSS001047|
Hispanic or Latin American Ancestry|
20,486 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6249 [0.6156, 0.6342] Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002127 PSS001045|
Additional Asian Ancestries|
4,576 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.8411 [0.8298, 0.8523] Odds Ratio (OR, top 10% vs middle 20%): 3.08 [2.4, 3.95] Age, sex, body mass index, study, PCs(1-10) Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002129 PSS001045|
Additional Asian Ancestries|
4,576 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6263 [0.6101, 0.6425] Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002131 PSS001048|
Additional Diverse Ancestries|
3,551 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.7989 [0.7845, 0.8133] Odds Ratio (OR, top 10% vs middle 20%): 2.02 [1.54, 2.65] Age, sex, body mass index, PCs(1-10) Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002133 PSS001048|
Additional Diverse Ancestries|
3,551 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6214 [0.603, 0.6399] Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.
PPM002115 PSS001044|
African Ancestry|
15,609 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6701 [0.6615, 0.6788] Odds Ratio (OR, top 10% vs middle 20%): 1.57 [1.39, 1.77] Age, sex, body mass index, study, PCs(1-10) Only 579 SNPs from the 582 SNP GRS, were utilised with imputation INFO scores > 0.45. 3 SNPs were not included as they were not present in the cohorts.

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
PSS001044 Cases are individuals with type 2 diabetes (T2D). T2D cases were defined as individuals with (1) a T2D diagnosis by a physician/medical professional and use of medication for treatment of diabetes, and/or (2)a fasting(R8h)blood glucose measurement R126 mg/dL indicated in examination records. For the BMBB cohort T2D diabetes status was defined from algorithms extracted from electronic medical record (EMR) and includes family history of T2D as an exclusion criteria. For T2D cases, BMBB defined medications using unique RxNorm codes at an ingredient level and defined laboratory tests using the logical observations identifiers names and codes (LOINC) standard (https://www.phekb.org/phenotype/type-2-diabetes-mellitus). BioMe included all patients with ICD-9-CM codes of 250.x0 or 250.x2, except for codes 250.10 and 250.12 (indicative of T2D with ketoacidosis, a condition also closely associated with T1D), patients on T2D medications and/or insulin at any time, and all patients with abnormal glucose (>200 mg/dl) or hemoglobin A1c (HbA1c; ≥6.5%) laboratory test results. For the MEC cohort, T2D cases were defined using the following criteria: (a) a self-report of diabetes on the baseline questionnaire, 2nd questionnaire or 3rd questionnaire; and (b) self-report of taking medication for T2D at the time of blood draw; and (c) no diagnosis of T1D in the absence of a T2D diagnosis from the California Office of Statewide Health Planning and Development (OSHPD) for California Residents. In addition, cases included individuals who were linked to the diabetes registries of Hawaii Medical Service Association (HMSA) or Kaiser Permanente Hawaii (KPH) health plans, or who were designated as diabetic in the Chronic Conditions Data Warehouse (CCW) of Medicare. For the WHI cohort, T2D was documented at baseline by self-report in which each woman was asked whether she had ever been told that she had “sugar diabetes” by her physician. Incident diabetes during follow-up was documented by self-report at each semi-annual contact, when participants were asked, “Since the date given on the front of this form, has a doctor prescribed any of the following pills or treatments?” Choices included “pills for diabetes” and “insulin shots for diabetes.”. For the ARIC cohort prevalent type 2 diabetes was defined at the baseline examination as fasting (≥8 h) blood glucose ≥126 mg/dL, or nonfasting glucose ≥200 mg/dL, self-report physician diagnosis of diabetes or “sugar in the blood,” or current medication use for diabetes within the last two weeks. For the CARDIA cohort, T2D was determined at last visit based on a combination of measured fasting glucose levels (≥7.0 mmol/L and ≥126 mg/dL) at examination years 0, 7, 10, 15, 20, or 25; self-report of oral hypoglycemic medications or insulin at years 0, 7, 10, 15, 20, or 25; a 2-h postload glucose ≥11.1 mmol/L (≥200 mg/dL) during a 75-g oral glucose tolerance test at years 10, 20, and 25; or an HbA1c ≥6.5% at years 20 and 25.
[
  • 5,972 cases
  • , 9,637 controls
]
African American or Afro-Caribbean ARIC, BioMe, CARDIA, MEC, WHI Possible sample overlap with this dataset and the datasets used to source/develop GRS582_T2Dmulti and GRS582_T2Dafr.
PSS001045 Cases are individuals with type 2 diabetes (T2D). T2D cases were defined as individuals with (1) a T2D diagnosis by a physician/medical professional and use of medication for treatment of diabetes,and/or (2)a fasting(R8h)blood glucose measurement R126 mg/dL indicated in examination records. For the BMBB cohort T2D diabetes status was defined from algorithms extracted from electronic medical record (EMR) and includes family history of T2D as an exclusion criteria. For T2D cases, BMBB defined medications using unique RxNorm codes at an ingredient level and defined laboratory tests using the logical observations identifiers names and codes (LOINC) standard (https://www.phekb.org/phenotype/type-2-diabetes-mellitus). BioMe included all patients with ICD-9-CM codes of 250.x0 or 250.x2, except for codes 250.10 and 250.12 (indicative of T2D with ketoacidosis, a condition also closely associated with T1D), patients on T2D medications and/or insulin at any time, and all patients with abnormal glucose (>200 mg/dl) or hemoglobin A1c (HbA1c; ≥6.5%) laboratory test results. For the MEC cohort, T2D cases were defined using the following criteria: (a) a self-report of diabetes on the baseline questionnaire, 2nd questionnaire or 3rd questionnaire; and (b) self-report of taking medication for T2D at the time of blood draw; and (c) no diagnosis of T1D in the absence of a T2D diagnosis from the California Office of Statewide Health Planning and Development (OSHPD) for California Residents. In addition, cases included individuals who were linked to the diabetes registries of Hawaii Medical Service Association (HMSA) or Kaiser Permanente Hawaii (KPH) health plans, or who were designated as diabetic in the Chronic Conditions Data Warehouse (CCW) of Medicare. For the WHI cohort, T2D was documented at baseline by self-report in which each woman was asked whether she had ever been told that she had “sugar diabetes” by her physician. Incident diabetes during follow-up was documented by self-report at each semi-annual contact, when participants were asked, “Since the date given on the front of this form, has a doctor prescribed any of the following pills or treatments?” Choices included “pills for diabetes” and “insulin shots for diabetes.”.
[
  • 2,004 cases
  • , 2,572 controls
]
Asian unspecified BioMe, MEC, WHI Possible sample overlap with this dataset and the datasets used to source/develop GRS582_T2Dmulti and GRS582_T2Dasn.
PSS001046 Cases are individuals with type 2 diabetes (T2D). T2D cases were defined as individuals with (1) a T2D diagnosis by a physician/medical professional and use of medication for treatment of diabetes,and/or (2)a fasting(R8h)blood glucose measurement R126 mg/dL indicated in examination records. For the UKB cohort, T2D cases were defined by an ICD-10 code of E11.X or a self-reported diagnosis in an interview with a trained nurse.
[
  • 19,786 cases
  • , 403,943 controls
]
European UKB Possible significant sample overlap with this dataset and the datasets used to source/develop GRS582_T2Dmulti and GRS582_T2Deur
PSS001047 Cases are individuals with type 2 diabetes (T2D). T2D cases were defined as individuals with (1) a T2D diagnosis by a physician/medical professional and use of medication for treatment of diabetes,and/or (2)a fasting(R8h)blood glucose measurement R126 mg/dL indicated in examination records. For the BMBB cohort T2D diabetes status was defined from algorithms extracted from electronic medical record (EMR) and includes family history of T2D as an exclusion criteria. For T2D cases, BMBB defined medications using unique RxNorm codes at an ingredient level and defined laboratory tests using the logical observations identifiers names and codes (LOINC) standard (https://www.phekb.org/phenotype/type-2-diabetes-mellitus). BioMe included all patients with ICD-9-CM codes of 250.x0 or 250.x2, except for codes 250.10 and 250.12 (indicative of T2D with ketoacidosis, a condition also closely associated with T1D), patients on T2D medications and/or insulin at any time, and all patients with abnormal glucose (>200 mg/dl) or hemoglobin A1c (HbA1c; ≥6.5%) laboratory test results. For the MEC cohort, T2D cases were defined using the following criteria: (a) a self-report of diabetes on the baseline questionnaire, 2nd questionnaire or 3rd questionnaire; and (b) self-report of taking medication for T2D at the time of blood draw; and (c) no diagnosis of T1D in the absence of a T2D diagnosis from the California Office of Statewide Health Planning and Development (OSHPD) for California Residents. In addition, cases included individuals who were linked to the diabetes registries of Hawaii Medical Service Association (HMSA) or Kaiser Permanente Hawaii (KPH) health plans, or who were designated as diabetic in the Chronic Conditions Data Warehouse (CCW) of Medicare. For the WHI cohort, T2D was documented at baseline by self-report in which each woman was asked whether she had ever been told that she had “sugar diabetes” by her physician. Incident diabetes during follow-up was documented by self-report at each semi-annual contact, when participants were asked, “Since the date given on the front of this form, has a doctor prescribed any of the following pills or treatments?” Choices included “pills for diabetes” and “insulin shots for diabetes.”. For the SOL cohort, T2D cases were defined as those with fasting time >8 h and fasting glucose levels ≥126 mg/dL, fasting ≤8 h and fasting glucose ≥200 mg/dL, post–oral glucose tolerance test glucose ≥200 mg/dL, HbA1c ≥6.5% (48 mmol/mol), or on current treatment with antihyperglycemia medications.
[
  • 4,137 cases
  • , 16,349 controls
]
Hispanic or Latin American BioMe, MEC, SOL, WHI Possible sample overlap with this dataset and the datasets used to source/develop GRS582_T2Dmulti and GRS582_T2Dhis.
PSS001048 Cases are individuals with type 2 diabetes (T2D). T2D cases were defined as individualswith (1) a T2D diagnosis by a physician/medical professional and use of medication for treat-mentofdiabetes,and/or (2)a fasting(R8h)blood glucose measurement R126 mg/dL indicated in examination records. For the MEC cohort, T2D cases were defined using the following criteria: (a) a self-report of diabetes on the baseline questionnaire, 2nd questionnaire or 3rd questionnaire; and (b) self-report of taking medication for T2D at the time of blood draw; and (c) no diagnosis of T1D in the absence of a T2D diagnosis from the California Office of Statewide Health Planning and Development (OSHPD) for California Residents. In addition, cases included individuals who were linked to the diabetes registries of Hawaii Medical Service Association (HMSA) or Kaiser Permanente Hawaii (KPH) health plans, or who were designated as diabetic in the Chronic Conditions Data Warehouse (CCW) of Medicare.
[
  • 1,534 cases
  • , 2,017 controls
]
Oceanian
(Native Hawaiian)
MEC