Summary
This table shows the number of unique publications based on PubmedID submitted to the PRIMED website that have records in PGS Catalog; the number of PRS developed in these publications; and the number of unique PRS evaluated in these publications. A single publication can include both development and evaluation of a PRS.
| Summary | N |
|---|---|
| Publications | 21 |
| PRS developed | 29 |
| PRS evaluated | 41 |
List of PRS in PRIMED
This table shows the records of PRS from the PGS Catalog that have been either developed or evaluated in PRIMED publications. The columns “Developed by PRIMED” and “Evaluated in PRIMED” indicate whether the PRS was developed or evaluated in PRIMED publications, respectively.
Counts by trait
This table shows the number of unique publications, the number of unique PRS developed, and the number of unique PRS evaluated for each trait. The table counts results only from PRIMED publications that have a record in the PGS Catalog.
The columns in this table represent the following counts:
- Publications: The number of PRIMED publications that developed or evaluated PRS for the listed trait
- PRS developed: The number of unique PRS developed in PRIMED publications for this trait.
- PRS evaluated: The number of unique PRS evaluated in PRIMED publications for this trait.
- Sample sets: The number of unique sample sets used for evaluation of PRS for this trait by PRIMED publications.
- Evaluations: The total number of evaluations for this trait in PRIMED publications. Note that this count can include multiple evaluations of the same PRS in the same sample set, for example with different covariates.
| Trait | Publications | PRS developed | PRS evaluated | Sample sets | Evaluations |
|---|---|---|---|---|---|
| Asthma | 1 | 1 | 1 | 5 | 5 |
| Atrial Fibrillation | 1 | 0 | 1 | 1 | 1 |
| Breast Carcinoma | 2 | 4 | 5 | 2 | 5 |
| Chronic Kidney Disease | 1 | 1 | 1 | 4 | 4 |
| Colorectal Cancer | 3 | 2 | 3 | 3 | 9 |
| Coronary Artery Disease | 5 | 7 | 10 | 21 | 60 |
| Preeclampsia | 1 | 2 | 2 | 1 | 2 |
| Prostate Carcinoma | 5 | 3 | 6 | 10 | 24 |
| Prostate Specific Antigen Amount | 1 | 2 | 2 | 8 | 16 |
| Systolic Blood Pressure | 1 | 1 | 1 | 1 | 1 |
| Type 1 Diabetes Mellitus | 1 | 0 | 2 | 6 | 12 |
| Type 2 Diabetes Mellitus | 4 | 5 | 6 | 13 | 15 |
| Uterine Fibroid | 1 | 1 | 1 | 1 | 3 |
Ancestry information
Key
This table shows the ancestry groups as defined by PGS Catalog that will be used later in this document.
| Abbreviation | Ancestry |
|---|---|
| MAE | Multi-ancestry (including European) |
| MAO | Multi-ancestry (excluding European) |
| AFR | African |
| EAS | East Asian |
| SAS | South Asian |
| ASN | Additional Asian Ancestries |
| EUR | European |
| GME | Greater Middle Eastern |
| AMR | Hispanic or Latin American |
| OTH | Additional Diverse Ancestries |
| NR | Not Reported |
Please see the PGS Catalog Ancestry documentation for more information.
Ancestry groups used to develop PRS in PRIMED publications
This table shows the ancestry groups in which PRS have been developed by PRIMED publications. “Stage” represents the stage at which that ancestry group was included: “gwas” means the samples in which the summary statistics used to derive the PRS were created; and “dev” means the samples used to train the PRS model. The entry for each PGS and ancestry category is the percentage of samples from that ancestry category that contributed.
| trait | pgs_id | stage | MAE | MAO | AFR | EAS | SAS | ASN | EUR | GME | AMR | OTH | NR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Asthma | PGS002727 | gwas | – | – | 5% | 3% | – | – | 89% | – | 1% | – | – |
| dev | 100% | – | – | – | – | – | – | – | – | – | – | ||
| Breast Carcinoma | PGS003396 | gwas | – | – | – | 100% | – | – | – | – | – | – | – |
| PGS003397 | gwas | – | – | – | 100% | – | – | – | – | – | – | – | |
| PGS003398 | gwas | – | – | – | – | – | – | 100% | – | – | – | – | |
| PGS003399 | gwas | – | – | – | – | – | – | 100% | – | – | – | – | |
| Chronic Kidney Disease | PGS002237 | dev | – | – | – | – | – | – | 100% | – | – | – | – |
| Colorectal Cancer | PGS002252 | gwas | – | – | 1% | 18% | – | – | 80% | – | – | – | – |
| PGS003439 | gwas | – | – | – | 36% | – | – | 63% | – | – | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| Coronary Artery Disease | PGS003446 | gwas | – | – | 13% | – | – | – | 80% | – | 5% | – | – |
| PGS003725 | gwas | 100% | – | – | – | – | – | – | – | – | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| PGS003726 | gwas | 100% | – | – | – | – | – | – | – | – | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| PGS003727 | gwas | – | – | – | – | – | – | 100% | – | – | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| PGS004696 | gwas | – | – | 7% | 19% | – | – | 70% | – | 2% | – | – | |
| dev | – | 5% | 19% | – | – | – | 64% | – | 11% | – | – | ||
| PGS004697 | gwas | – | – | 4% | 11% | – | – | 82% | – | 1% | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| PGS004698 | gwas | – | – | 7% | 19% | – | – | 70% | – | 2% | – | – | |
| dev | – | 5% | 19% | – | – | – | 64% | – | 11% | – | – | ||
| Preeclampsia | PGS003586 | gwas | – | – | 0% | – | – | 21% | 78% | – | 0% | – | – |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| PGS003587 | gwas | – | – | 0% | – | – | 6% | 91% | – | 1% | – | – | |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| Prostate Carcinoma | PGS003460 | gwas | – | – | 16% | 10% | – | – | 69% | – | 3% | – | – |
| PGS003765 | gwas | 100% | – | – | – | – | – | – | – | – | – | – | |
| PGS003766 | gwas | 100% | – | – | – | – | – | – | – | – | – | – | |
| Prostate Specific Antigen Amount | PGS003378 | gwas | – | – | 3% | 3% | – | – | 89% | – | 3% | – | – |
| PGS003379 | gwas | – | – | 3% | 3% | – | – | 89% | – | 3% | – | – | |
| Systolic Blood Pressure | PGS003588 | gwas | – | – | – | – | – | – | 100% | – | – | – | – |
| dev | – | – | – | – | – | – | 100% | – | – | – | – | ||
| Type 2 Diabetes Mellitus | PGS002308 | gwas | – | – | 2% | 16% | – | – | 81% | – | – | – | – |
| PGS003443 | gwas | – | – | – | – | – | – | 100% | – | – | – | – | |
| dev | – | – | – | – | – | – | – | – | 100% | – | – | ||
| PGS003444 | gwas | – | – | – | 100% | – | – | – | – | – | – | – | |
| dev | – | – | – | – | – | – | – | – | 100% | – | – | ||
| PGS003445 | gwas | – | – | – | – | – | – | – | – | 100% | – | – | |
| dev | – | – | – | – | – | – | – | – | 100% | – | – | ||
| PGS004859 | gwas | – | 13% | 3% | – | – | – | 81% | – | 1% | – | – | |
| Uterine Fibroid | PGS002263 | gwas | – | – | – | – | – | – | 100% | – | – | – | – |
| dev | – | – | – | – | – | – | – | – | – | – | 100% |
Ancestry groups used for evaluating PRS in PRIMED publications
This table shows the ancestry groups in which PRS have been evaluated by PRIMED publications. The entry for each PGS and ancestry category is the number of evaluations that have been done for that specific PGS in that specific ancestry category. Note that a PRS can be evaluated multiple times in the same sample set, e.g., with different covariates.
| trait | pgs_id | MAE | MAO | AFR | EAS | SAS | ASN | EUR | GME | AMR | OTH | NR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Asthma | PGS002727 | – | – | 1 | 1 | 1 | – | 1 | – | 1 | – | – |
| Atrial Fibrillation | PGS000016 | 1 | – | – | – | – | – | – | – | – | – | – |
| Breast Carcinoma | PGS000007 | 1 | – | – | – | – | – | – | – | – | – | – |
| PGS003396 | – | – | – | 1 | – | – | – | – | – | – | – | |
| PGS003397 | – | – | – | 1 | – | – | – | – | – | – | – | |
| PGS003398 | – | – | – | 1 | – | – | – | – | – | – | – | |
| PGS003399 | – | – | – | 1 | – | – | – | – | – | – | – | |
| Chronic Kidney Disease | PGS002237 | – | – | 1 | – | – | 1 | 1 | – | 1 | – | – |
| Colorectal Cancer | PGS000765 | 1 | – | – | – | – | – | – | – | – | – | – |
| PGS002252 | – | – | – | – | – | – | 6 | – | – | – | – | |
| PGS003439 | – | – | – | – | – | – | 2 | – | – | – | – | |
| Coronary Artery Disease | PGS000013 | 1 | – | 4 | – | – | – | 4 | – | 4 | – | – |
| PGS000018 | – | – | 4 | – | – | – | 4 | – | 4 | – | – | |
| PGS001355 | – | – | – | – | – | – | 1 | – | – | – | – | |
| PGS003446 | – | – | 1 | – | – | – | 1 | – | 1 | – | – | |
| PGS003725 | – | – | 2 | 1 | 2 | – | 2 | – | 1 | – | – | |
| PGS003726 | – | – | 1 | 1 | 1 | – | 1 | – | – | – | – | |
| PGS003727 | – | – | 1 | 1 | 1 | – | 1 | – | – | – | – | |
| PGS004696 | – | – | 1 | 1 | 1 | – | 1 | – | 1 | – | – | |
| PGS004697 | – | – | 1 | 1 | 1 | – | 1 | – | 1 | – | – | |
| PGS004698 | – | – | 1 | 1 | 1 | – | 1 | – | 1 | – | – | |
| Preeclampsia | PGS003586 | – | – | – | – | – | – | 1 | – | – | – | – |
| PGS003587 | – | – | – | – | – | – | 1 | – | – | – | – | |
| Prostate Carcinoma | PGS000030 | 1 | – | 3 | – | – | – | – | – | – | – | – |
| PGS000662 | 7 | – | 3 | – | – | – | – | – | – | – | – | |
| PGS000733 | – | – | 3 | – | – | – | – | – | – | – | – | |
| PGS003460 | – | – | 1 | – | – | – | – | – | – | – | – | |
| PGS003765 | – | – | 1 | – | – | – | 1 | – | – | – | – | |
| PGS003766 | – | – | 2 | – | – | – | 2 | – | – | – | – | |
| Prostate Specific Antigen Amount | PGS003378 | – | – | 3 | 1 | – | – | 2 | – | – | 2 | – |
| PGS003379 | – | – | 3 | 1 | – | – | 2 | – | – | 2 | – | |
| Systolic Blood Pressure | PGS003588 | – | – | – | – | – | – | 1 | – | – | – | – |
| Type 1 Diabetes Mellitus | PGS000023 | 2 | 2 | – | – | – | – | 1 | – | – | – | – |
| PGS000024 | 2 | 1 | – | – | – | – | 4 | – | – | – | – | |
| Type 2 Diabetes Mellitus | PGS000014 | 1 | – | – | – | – | – | – | – | – | – | – |
| PGS002308 | – | – | 5 | 3 | – | – | 1 | – | 1 | – | – | |
| PGS003443 | – | – | – | – | – | – | – | – | 1 | – | – | |
| PGS003444 | – | – | – | – | – | – | – | – | 1 | – | – | |
| PGS003445 | – | – | – | – | – | – | – | – | 1 | – | – | |
| PGS004859 | 1 | – | – | – | – | – | – | – | – | – | – | |
| Uterine Fibroid | PGS002263 | – | – | – | – | – | – | 3 | – | – | – | – |
| Total | 10 | 2 | 20 | 14 | 7 | 1 | 25 | – | 13 | 2 | – |
The following plot shows the relative number of evaluations for each ancestry category from the “Total” row in the table above.
Publications
This table shows the list of publications that mapped to the PGS catalog and were used for reporting in this document. More information about each publication can be found on the PRIMED consortium website.
| pmid | pgp_id | Title | First author |
|---|---|---|---|
| 38380516 | PGP000602 | Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. | Smith JL |
| 37945903 | PGP000488 | Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants | Wang A |
| 37011137 | PGP000506 | Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease. | Jowell A |
| 37353344 | PGP000605 | Type 2 Diabetes Polygenic Score Predicts the Risk of Glucocorticoid-Induced Hyperglycemia in Patients Without Diabetes. | Deutsch AJ |
| 37414900 | PGP000466 | A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. | Patel AP |
| 36872133 | PGP000453 | Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry. | Chen F |
| 37148359 | PGP000445 | The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes. | Huerta-Chagoya A |
| 37264206 | PGP000412 | Genetically adjusted PSA levels for prostate cancer screening. | Kachuri L |
| 37248299 | PGP000462 | Polygenic prediction of preeclampsia and gestational hypertension. | Honigberg MC |
| 36622766 | PGP000441 | Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort. | Su YR |
| 36745605 | PGP000477 | Polygenic Scores Help Reduce Racial Disparities in Predictive Accuracy of Automated Type 1 Diabetes Classification Algorithms. | Deutsch AJ |
| 36126957 | PGP000380 | Association of Prostate-Specific Antigen Levels with Prostate Cancer Risk in a Multiethnic Population: Stability over Time and Comparison with Polygenic Risk Score. | Chou A |
| 36343017 | PGP000415 | Polygenic risk scores for prediction of breast cancer in Korean women. | Jee YH |
| 35226188 | PGP000291 | Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid. | Piekos JA |
| 35595084 | PGP000335 | Multiancestral polygenic risk score for pediatric asthma. | Namjou B |
| 36100952 | PGP000373 | Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa. | Kim MS |
| 35915156 | PGP000446 | Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. | Tcheandjieu C |
| 35710995 | PGP000269 | Genome-wide polygenic score to predict chronic kidney disease across ancestries. | Khan A |
| 35765100 | PGP000331 | Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. | Ge T |
| 35437332 | PGP000381 | Development of a clinical polygenic risk score assay and reporting workflow. | Hao L |
| 35026030 | PGP000279 | Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study. | Archambault AN |