Predicted Trait | |
Reported Trait | Type 2 diabetes (T2D) |
Mapped Trait(s) | type 2 diabetes mellitus (MONDO_0005148) |
Score Construction | |
PGS Name | t2d_PRSmix_eur |
Development Method | |
Name | PRSmix |
Parameters | power=0.95; p=0.05 |
Variants | |
Original Genome Build | hg38 |
Number of Variants | 3,306,136 |
Effect Weight Type | beta |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000604 |
Citation (link to publication) | Truong B et al. Cell Genom (2024) |
Ancestry Distribution | |
Score Development/Training | European: 100% 31,517 individuals (100%) |
PGS Evaluation | Greater Middle Eastern: 66.7% European: 33.3% 3 Sample Sets |
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 |
---|---|---|---|---|---|---|---|---|
— | 31,517 individuals | European | AllofUs | Meets any of the following case definitions: 1 (or more) diagnosis codes for Type 2 diabetes (T2D) AND 1 (or more) drug exposure for Type 2 diabetes medications EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes (T1D), OR 1 (or more) diagnosis codes AND 2 (or more) drug exposures for Type 1 diabetes and Type 2 diabetes medications with Type 2 diabetes drug exposure occurring ≥1 day before Type 1 diabetes drug exposure EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes, OR 2 (or more) diagnosis codes for Type 2 diabetes AND 1 (or more) drug exposure for Type 1 diabetes medication EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes OR 1 (or more) drug exposures for Type 2 diabetes medications AND 1 (or more) lab results EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes. | — | — | — | — |
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 |
---|---|---|---|---|---|---|---|---|
PPM021062 | PSS011507| European Ancestry| 7,879 individuals |
PGP000604 | Truong B et al. Cell Genom (2024) |
Reported Trait: Type 2 diabetes | — | — | Incremental R2 (Full model versus model with only covariates): 0.099 [0.087, 0.112] | age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 | Incremental R2 (Full model versus model with only covariates) |
PPM022871 | PSS012080| Greater Middle Eastern Ancestry| 4,534 individuals |
PGP000753 | Aliyu U et al. Diabetes Obes Metab (2025) |Ext. |
Reported Trait: Prediabetes | OR: 1.306 [1.219, 1.399] | AUROC: 0.654 [0.638, 0.669] | R²: 0.092 | sex, baseline age, BMI, PCs1-10 | — |
PPM022887 | PSS012081| Greater Middle Eastern Ancestry| 2,143 individuals |
PGP000753 | Aliyu U et al. Diabetes Obes Metab (2025) |Ext. |
Reported Trait: Incident T2D in prediabetics | HR: 1.638 [1.402, 1.915] | AUROC: 0.776 [0.745, 0.807] | — | sex, baseline age, BMI, PCs1-10 | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS011507 | — | — | 7,879 individuals | — | European | — | AllofUs | — |
PSS012080 | age-matched cohort | — | [
|
— | Greater Middle Eastern (Middle Eastern, North African or Persian) (Qatari) |
— | QBB | — |
PSS012081 | — | Median = 6.0 years | [ ,
54.22 % Male samples |
— | Greater Middle Eastern (Middle Eastern, North African or Persian) (Qatari) |
— | QBB | — |