Predicted Trait | |
Reported Trait | Type 2 diabetes (T2D) |
Mapped Trait(s) | type 2 diabetes mellitus (MONDO_0005148) |
Score Construction | |
PGS Name | PRS_T2D |
Development Method | |
Name | LDpred |
Parameters | ρ = 0.3; LD radius = 4000; LD reference panel = 2,690 Finnish individuals [autosomal variants only] |
Variants | |
Original Genome Build | hg19 |
Number of Variants | 6,437,380 |
Effect Weight Type | NR |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000100 |
Citation (link to publication) | Mars N et al. Nat Med (2020) |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST009379 Europe PMC: 30297969 |
898,130 individuals | European | NR |
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 |
---|---|---|---|---|---|---|---|---|
— | 21,813 individuals, 47.3 % Male samples |
European (Finnish) |
FINRISK | National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9. | Mean (Age At Baseline) = 48.0 years | — | — | Used to select optimal threshold of ρ for all subsequent analyses. FINRISK surveys from 1992, 1997, 2002 and 2007 |
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 |
---|---|---|---|---|---|---|---|---|
PPM000897 | PSS000441| European Ancestry| 21,030 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Incident type 2 diabetes | — | C-index: 0.845 | — | age, sex, BMI, history of stroke or CHD, parental history of diabetes, SBP, DBP, HDL, triglycerides, FINRISK cohort, genotyping array/batch, 10 ancestry PCs | 10-year risk |
PPM000892 | PSS000441| European Ancestry| 21,030 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Incident type 2 diabetes | HR: 1.7 [1.63, 1.78] | C-index: 0.763 | — | age, sex, FINRISK cohort, genotyping array/batch, 10 ancestry PCs | 10-year risk |
PPM000887 | PSS000448| European Ancestry| 135,300 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Type 2 diabetes (incident and prevalent cases) | HR: 1.74 [1.72, 1.77] | — | — | genotyping array/batch, 10 ancestry PCs, stratified by sex | — |
PPM021416 | PSS011737| European Ancestry| 109,021 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.79 [1.75, 1.83] | AUROC: 0.726 [0.721, 0.73] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021444 | PSS011738| European Ancestry| 38,941 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | HR: 1.94 [1.8, 2.09] | C-index: 0.767 [0.75, 0.783] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021474 | PSS011735| African Ancestry| 44,346 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.27 [1.23, 1.31] | AUROC: 0.72 [0.714, 0.727] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021495 | PSS011736| Hispanic or Latin American Ancestry| 33,652 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.58 [1.53, 1.64] | AUROC: 0.768 [0.761, 0.775] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021519 | PSS011740| East Asian Ancestry| 1,149 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | OR: 1.29 [1.11, 1.51] | AUROC: 0.619 [0.577, 0.661] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021544 | PSS011741| South Asian Ancestry| 852 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | OR: 1.32 [1.12, 1.57] | AUROC: 0.66 [0.619, 0.701] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021586 | PSS011743| African Ancestry| 6,871 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.31 [1.21, 1.42] | AUROC: 0.716 [0.696, 0.735] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021611 | PSS011745| East Asian Ancestry| 1,432 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.43 [1.12, 1.83] | AUROC: 0.714 [0.658, 0.77] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021626 | PSS011749| South Asian Ancestry| 6,992 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Type 2 diabetes | OR: 1.62 [1.51, 1.73] | AUROC: 0.724 [0.709, 0.738] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021663 | PSS011744| East Asian Ancestry| 1,350 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | HR: 1.58 [1.13, 2.22] | C-index: 0.695 [0.611, 0.779] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021687 | PSS011748| South Asian Ancestry| 5,685 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | HR: 1.28 [1.17, 1.4] | C-index: 0.622 [0.6, 0.645] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021563 | PSS011739| Additional Asian Ancestries| 870 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | OR: 1.45 [1.22, 1.72] | AUROC: 0.674 [0.632, 0.717] | — | Age at baseline, sex (PGS adjusted for 20 PCs prior to model fitting) | — |
PPM021642 | PSS011742| African Ancestry| 6,019 individuals |
PGP000656 | Ritchie SC et al. medRxiv (2024) |Ext.|Pre |
Reported Trait: Incident type 2 diabetes | HR: 1.17 [1.06, 1.29] | C-index: 0.646 [0.619, 0.672] | — | Age at baseline, sex assessment centre (PGS adjusted for 20 PCs prior to model fitting) | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS011735 | T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medication, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysis | — | [
|
— | African unspecified | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | AllofUs | — |
PSS011736 | T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medication, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysis | — | [
|
— | Hispanic or Latin American | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | AllofUs | — |
PSS011737 | T2D cases were ascertained based on a combination of hospital diagnosis codes, prescription medication, and lab results from blood tests occurring prior to baseline assessment. Participants were considered controls if they had no history of any diabetes diagnoses, T2D medication, or abnormal glucose or HbA1c lab results. Participants with T1D or uncertain diabetes status were excluded from analysis | — | [
|
— | European | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | AllofUs | — |
PSS011738 | T2D was defined using ICD-10 codes E10-E14, G59.0, G63.2, H28.0, H36.0, M14.2, N08.3, or O24.0-O24.3. Participants with any diabetes history were excluded from analysis. Incident diabetes events were treated as incident T2D | — | [
|
— | European | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | INTERVAL | — |
PSS011739 | Incident T2D was ascertained through a combination of linkage to national healthcare records, self-reported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L) | — | [
|
— | South East Asian (Malay Singaporean) |
Ancestry label assigned based on Malay being the majority reported ethnicity within the genetic cluster | SingaporeMEC | — |
PSS011740 | Incident T2D was ascertained through a combination of linkage to national healthcare records, self-reported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L) | — | [
|
— | East Asian (Chinese Singaporean) |
Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | SingaporeMEC | — |
PSS011741 | Incident T2D was ascertained through a combination of linkage to national healthcare records, self-reported medical history at follow-up assessment (either diagnosis from a primary care physician or current diabetes medication usage), or with blood biomarker concentrations indicative of diabetes following the American Diabetes Association criteria (fasting glucose ≥ 7 mmol/L or HbA1c ≥ 6.5% or random blood glucose ≥11 mmol/L) | — | [
|
— | South Asian (Indian Singaporean) |
Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | SingaporeMEC | — |
PSS011742 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | African unspecified | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS011743 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | African unspecified | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS011744 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | East Asian | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS000441 | National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9. | — | [ ,
47.3 % Male samples |
Mean (Age At Baseline) = 48.0 years | European (Finnish) |
— | FINRISK | FINRISK surveys from 1992, 1997, 2002 and 2007 |
PSS011745 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | East Asian | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS011748 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | South Asian | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS011749 | Prevalent T2D status at baseline was adjudicated from a combination of retrospective hospital episode records, self-reported history of diabetes, and baseline medication using the Eastwood et al. algorithms. Incident T2D cases were ascertained following the Eastwood et al. algorithms on the basis of ICD-10 diagnosis coding E11 in either the hospital inpatient or death registry data | — | [
|
— | South Asian | Ancestry label assigned based on genetic similarity with 1000 Genomes reference panel superpopulations | UKB | — |
PSS000448 | National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9. | — | [ ,
43.7 % Male samples |
Mean (Age At Baseline) = 59.2 years Sd = 16.6 years |
European (Finnish) |
— | FinnGen | — |