| Predicted Trait | |
| Reported Trait | Type 2 diabetes (T2D) |
| Mapped Trait(s) | type 2 diabetes mellitus (MONDO_0005148) |
| Score Construction | |
| PGS Name | GRS582_T2Dhis |
| 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) | Hispanic or Latin American: 100% 20,445 individuals (100%) |
| PGS Evaluation | Hispanic or Latin American: 100% 1 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST010554 Europe PMC: 32541925 |
20,445 individuals | Hispanic or Latin American | MVP |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM002124 | PSS001047| Hispanic or Latin American Ancestry| 20,486 individuals |
PGP000193 | Polfus LM et al. HGG Adv (2021) |
Reported Trait: Type 2 diabetes | — | AUROC: 0.7202 [0.7118, 0.7286] | Odds Ratio (OR, top 10% vs middle 20%): 2.04 [1.79, 2.32] | 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. |
| PPM002126 | PSS001047| Hispanic or Latin American Ancestry| 20,486 individuals |
PGP000193 | Polfus LM et al. HGG Adv (2021) |
Reported Trait: Type 2 diabetes | — | AUROC: 0.6098 [0.6004, 0.6192] | — | — | 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 |
|---|---|---|---|---|---|---|---|---|
| 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. |