| Predicted Trait | |
| Reported Trait | Type 2 diabetes (T2D) |
| Mapped Trait(s) | type 2 diabetes mellitus (MONDO_0005148) |
| 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) |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST010557 Europe PMC: 32541925 |
1,114,458 individuals | European | 32 cohorts
|
GWAS Catalog: GCST010557 Europe PMC: 32541925 |
56,092 individuals | African American or Afro-Caribbean | 32 cohorts
|
GWAS Catalog: GCST010557 Europe PMC: 32541925 |
20,445 individuals | Hispanic or Latin American | 32 cohorts
|
GWAS Catalog: GCST010557 Europe PMC: 32541925 |
216,287 individuals | East Asian, South Asian | 32 cohorts
|
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
|
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 |
|
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. |
|
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. | — | [
|
— | 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.”. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | Oceanian (Native Hawaiian) |
— | MEC | — |