Polygenic Score (PGS) ID: PGS000805

Predicted Trait
Reported Trait Type 2 diabetes
Mapped Trait(s) type II diabetes mellitus (EFO_0001360)
Released in PGS Catalog: June 11, 2021
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Terms and Licenses
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Score Details

Score Construction
PGS Name GRS582_T2Deur
Development Method
Name Genome-wide significant SNPs
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: 100%
1,114,458 individuals (100%)
PGS Evaluation
European: 50%
Additional Diverse Ancestries: 50%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010555
Europe PMC: 32541925
1,114,458 individuals European 32 cohorts
  • BMBB
  • ,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

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
PPM002120 PSS001046|
European Ancestry|
423,729 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.8253 [0.8224, 0.8281] Odds Ratio (OR, top 10% vs middle 20%): 2.95 [2.81, 3.1] 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.
PPM002122 PSS001046|
European Ancestry|
423,729 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6593 [0.6555, 0.6632] 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.
PPM002134 PSS001048|
Additional Diverse Ancestries|
3,551 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.6213 [0.6029, 0.6397] 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. Population-specific weights were not available for indiviuals of an Oceanian ancestry (Native Hawaiian). Therefore, GRS582_T2Deur was utilised to predict type 2 diabetes in individuals of an Oceanian ancestry.
PPM002132 PSS001048|
Additional Diverse Ancestries|
3,551 individuals
PGP000193 |
Polfus LM et al. HGG Adv (2021)
Reported Trait: Type 2 diabetes AUROC: 0.7985 [0.7842, 0.8129] Odds Ratio (OR, top 10% vs middle 20%): 2.13 [1.63, 2.79] 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. Population-specific weights were not available for indiviuals of an Oceanian ancestry (Native Hawaiian). Therefore, GRS582_T2Deur was utilised to predict type 2 diabetes in individuals of an Oceanian ancestry.

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
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
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