| 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 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |
| 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 |