Predicted Trait | |
Reported Trait | Type 2 diabetes (T2D) |
Mapped Trait(s) | type 2 diabetes mellitus (MONDO_0005148) |
Score Construction | |
PGS Name | GRS582_T2Deur |
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: 100% 1,114,458 individuals (100%) |
PGS Evaluation | European: 50% Additional Diverse Ancestries: 50% 2 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST010555 Europe PMC: 32541925 |
1,114,458 individuals | European | 32 cohorts
|
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. |
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. | — | [
|
— | 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. | — | [
|
— | European | — | UKB | Possible significant sample overlap with this dataset and the datasets used to source/develop GRS582_T2Dmulti and GRS582_T2Deur |