Publication Information (EuropePMC) | |
Title | Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. |
PubMed ID | 32386537(Europe PMC) |
doi | 10.1016/j.ajhg.2020.04.002 |
Publication Date | May 1, 2020 |
Journal | Am J Hum Genet |
Author(s) | Dikilitas O, Schaid DJ, Kosel ML, Carroll RJ, Chute CG, Denny JA, Fedotov A, Feng Q, Hakonarson H, Jarvik GP, Lee MTM, Pacheco JA, Rowley R, Sleiman PM, Stein CM, Sturm AC, Wei WQ, Wiesner GL, Williams MS, Zhang Y, Manolio TA, Kullo IJ. |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000200 (GRS28) |
PGP000082 | Tikkanen E et al. Arterioscler Thromb Vasc Biol (2013) |
Coronary heart disease | coronary artery disease | 28 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000200/ScoringFiles/PGS000200.txt.gz |
PGS000018 (metaGRS_CAD) |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |
Coronary artery disease | coronary artery disease | 1,745,179 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000018/ScoringFiles/PGS000018.txt.gz | |
PGS000011 (GRS50) |
PGP000004 | Tada H et al. Eur Heart J (2015) |
Coronary artery disease | coronary artery disease | 50 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000011/ScoringFiles/PGS000011.txt.gz |
PGS000013 (GPS_CAD) |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Coronary artery disease | coronary artery disease | 6,630,150 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM000589 | PGS000011 (GRS50) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.2 [1.15, 1.25] | C-index: 0.698 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000597 | PGS000018 (metaGRS_CAD) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.53 [1.23, 1.9] | C-index: 0.683 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000596 | PGS000013 (GPS_CAD) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.16 [0.96, 1.41] | C-index: 0.659 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000595 | PGS000011 (GRS50) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.13 [0.93, 1.36] | C-index: 0.654 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000594 | PGS000018 (metaGRS_CAD) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.27 [1.13, 1.43] | C-index: 0.663 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000593 | PGS000013 (GPS_CAD) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.19 [1.07, 1.33] | C-index: 0.656 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000592 | PGS000011 (GRS50) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.05 [0.94, 1.17] | C-index: 0.649 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000591 | PGS000018 (metaGRS_CAD) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.53 [1.46, 1.6] | C-index: 0.719 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000619 | PGS000013 (GPS_CAD) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.17 [1.04, 1.31] | C-index: 0.712 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000618 | PGS000011 (GRS50) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.05 [0.94, 1.18] | C-index: 0.704 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000617 | PGS000200 (GRS28) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.11 [0.99, 1.25] | C-index: 0.706 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000616 | PGS000018 (metaGRS_CAD) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.49 [1.43, 1.56] | C-index: 0.75 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000615 | PGS000013 (GPS_CAD) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.47 [1.41, 1.54] | C-index: 0.75 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000614 | PGS000011 (GRS50) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.2 [1.15, 1.25] | C-index: 0.736 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000613 | PGS000200 (GRS28) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.17 [1.12, 1.22] | C-index: 0.735 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000620 | PGS000018 (metaGRS_CAD) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.25 [1.12, 1.41] | C-index: 0.723 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000624 | PGS000018 (metaGRS_CAD) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.5 [1.21, 1.87] | C-index: 0.725 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000623 | PGS000013 (GPS_CAD) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.14 [0.94, 1.39] | C-index: 0.708 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000622 | PGS000011 (GRS50) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.12 [0.93, 1.36] | C-index: 0.708 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000621 | PGS000200 (GRS28) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.13 [0.93, 1.37] | C-index: 0.709 | — | sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000590 | PGS000013 (GPS_CAD) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.5 [1.43, 1.56] | C-index: 0.719 | — | sex, eMERGE site, first five ancestry-specific principal components | Age-as-time-scale Cox regression |
PPM000607 | PGS000200 (GRS28) |
PSS000334| European Ancestry| 39,758 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.18 [1.13, 1.23] | C-index: 0.697 | — | sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000608 | PGS000200 (GRS28) |
PSS000332| African Ancestry| 7,070 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.11 [0.99, 1.24] | C-index: 0.652 | — | sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000605 | PGS000013 (GPS_CAD) |
PSS000335| Hispanic or Latin American Ancestry| 2,493 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.42 [1.25, 1.61] | AUROC: 0.776 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000604 | PGS000011 (GRS50) |
PSS000335| Hispanic or Latin American Ancestry| 2,493 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.2 [1.06, 1.35] | AUROC: 0.769 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000603 | PGS000018 (metaGRS_CAD) |
PSS000331| African Ancestry| 7,597 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.4 [1.3, 1.52] | AUROC: 0.775 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000602 | PGS000013 (GPS_CAD) |
PSS000331| African Ancestry| 7,597 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.3 [1.21, 1.41] | AUROC: 0.771 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000601 | PGS000011 (GRS50) |
PSS000331| African Ancestry| 7,597 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.05 [0.98, 1.14] | AUROC: 0.763 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000600 | PGS000018 (metaGRS_CAD) |
PSS000333| European Ancestry| 45,645 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.73 [1.68, 1.78] | AUROC: 0.772 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000599 | PGS000013 (GPS_CAD) |
PSS000333| European Ancestry| 45,645 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.66 [1.62, 1.71] | AUROC: 0.77 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000598 | PGS000011 (GRS50) |
PSS000333| European Ancestry| 45,645 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.28 [1.25, 1.32] | AUROC: 0.75 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000612 | PGS000200 (GRS28) |
PSS000335| Hispanic or Latin American Ancestry| 2,493 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.27 [1.12, 1.42] | AUROC: 0.771 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000611 | PGS000200 (GRS28) |
PSS000331| African Ancestry| 7,597 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.07 [0.99, 1.16] | AUROC: 0.763 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000610 | PGS000200 (GRS28) |
PSS000333| European Ancestry| 45,645 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.24 [1.21, 1.28] | AUROC: 0.748 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000609 | PGS000200 (GRS28) |
PSS000336| Hispanic or Latin American Ancestry| 2,194 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Incident coronary heart disease | HR: 1.14 [0.94, 1.37] | C-index: 0.655 | — | sex, eMERGE site, first five ancestry-specific principal components | — |
PPM000606 | PGS000018 (metaGRS_CAD) |
PSS000335| Hispanic or Latin American Ancestry| 2,493 individuals |
PGP000083 | Dikilitas O et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.93 [1.67, 2.22] | AUROC: 0.794 | — | age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000331 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 9.2 years IQR = [5.5, 13.0] years |
[ ,
31.0 % Male samples |
Mean = 43.6 years Sd = 12.5 years |
African American or Afro-Caribbean | — | 7 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |
PSS000332 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 9.2 years IQR = [5.5, 13.0] years |
[ ,
31.0 % Male samples |
Mean = 43.6 years Sd = 12.5 years |
African American or Afro-Caribbean | — | 7 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |
PSS000333 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 11.7 years IQR = [6.0, 18.5] years |
[ ,
44.6 % Male samples |
Mean = 49.0 years Sd = 14.1 years |
European | — | 11 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |
PSS000334 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 11.7 years IQR = [6.0, 18.5] years |
[ ,
44.6 % Male samples |
Mean = 49.0 years Sd = 14.1 years |
European | — | 11 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |
PSS000335 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 10.4 years IQR = [5.7, 14.7] years |
[ ,
36.2 % Male samples |
Mean = 41.1 years Sd = 13.2 years |
Hispanic or Latin American | — | 8 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |
PSS000336 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 | Median = 10.4 years IQR = [5.7, 14.7] years |
[ ,
36.2 % Male samples |
Mean = 41.1 years Sd = 13.2 years |
Hispanic or Latin American | — | 8 cohorts
|
right censored at age 75 years or at the age of last observation (whichever was first) |