| Predicted Trait | |
| Reported Trait | Coronary artery disease |
| Mapped Trait(s) | coronary artery disease (EFO_0001645) |
| Score Construction | |
| PGS Name | metaGRS_CAD |
| Development Method | |
| Name | metaGRS |
| Parameters | metaGRS log(HR) mixing weights: GRS46K=0.1278, FDR202=0.2359 and 1000Genomes=0.2400 |
| Variants | |
| Original Genome Build | hg19 |
| Number of Variants | 1,745,179 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000007 |
| Citation (link to publication) | Inouye M et al. J Am Coll Cardiol (2018) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | |
| Score Development/Training | |
| PGS Evaluation | |
Study Identifiers
|
Sample Numbers
|
Sample Ancestry
|
Cohort(s)
|
|---|---|---|---|
Europe PMC: 23202125 | [
| European, South Asian | 34 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 2,268 individuals | Greater Middle Eastern (Middle Eastern, North African or Persian) | 40 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 3,139 individuals | African American or Afro-Caribbean | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 4,095 individuals | Hispanic or Latin American | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 11,323 individuals | East Asian | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 25,557 individuals | South Asian | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 | 141,217 individuals | European | 41 cohorts
|
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
|
|---|---|---|---|---|---|---|---|---|
| — | [
| European, NR | UKB | CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal cor... onary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75.Show more | — | — | ~95% European ancestry samples, <5% non-European ancestry | — |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000027 | PSS000018| Multi-ancestry (including European)| 482,629 individuals | PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) | Reported Trait: Incident coronary artery disease | HR: 1.706 [1.682, 1.73] | AUROC: 0.79 C-index: 0.623 [0.615, 0.631] | AUPRC: 0.161 | sex, genetic PCs (1-10), genotyping array | age-as-time-scale Cox regression |
| PPM000034 | PSS000021| European Ancestry| 1,964 individuals | PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. | Reported Trait: Coronary artery disease (prevalent) | OR: 1.74 [1.57, 1.93] | AUROC: 0.72 [0.7, 0.75] | — | age, sex, first four genetic PCs | — |
| PPM000035 | PSS000022| European Ancestry| 3,309 individuals | PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. | Reported Trait: Coronary artery disease (prevalent) | OR: 1.6 [1.43, 1.8] | AUROC: 0.89 [0.88, 0.91] | — | age, sex, first four genetic PCs | — |
| PPM000036 | PSS000019| European Ancestry| 5,762 individuals | PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. | Reported Trait: Coronary artery disease (prevalent) | OR: 1.75 [1.49, 2.05] | AUROC: 0.84 [0.81, 0.87] | — | age, sex, first four genetic PCs, cohort recruitment centre | — |
| PPM000037 | PSS000020| European Ancestry| 3,195 individuals | PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. | Reported Trait: Reccurent coronary artery disease events | OR: 1.17 [1.08, 1.26] | — | — | age, sex, first four genetic PCs | — |
| PPM000498 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Secondary cardiovascular events | HR: 1.15 [1.02, 1.29] | — | — | Age, sex, diabetes, BMI, smoking, hypercholesterolemia, array, 4 genetics PCs | — |
| PPM000499 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Moderate/heavy calficiations | — | — | Odds Ratio (OR; top 20% vs. rest): 1.001 [0.754, 1.33] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000500 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Moderate/heavy collagen | — | — | Odds Ratio (OR; top 20% vs. rest): 1.091 [0.755, 1.577] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000501 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Presence of lipid core >10% | — | — | Odds Ratio (OR; top 20% vs. rest): 1.591 [1.105, 2.291] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000502 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Presence of IPH | — | — | Odds Ratio (OR; top 20% vs. rest): 1.112 [0.821, 1.506] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000503 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Moderate/heavy smooth muscle cells | — | — | Odds Ratio (OR; top 20% vs. rest): 0.908 [0.652, 1.265] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000504 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Moderate/heavy macrophages | — | — | Odds Ratio (OR; top 20% vs. rest): 1.49 [1.118, 1.986] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000505 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Number of macrophages | — | — | Beta (top 20% vs. rest): 0.55 [-0.012, 0.121] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000506 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Number of smoooth muscle cells | — | — | Beta (top 20% vs. rest): -0.056 [-0.143, 0.031] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
| PPM000507 | PSS000287| European Ancestry| 1,319 individuals | PGP000077 | Timmerman N et al. Atherosclerosis (2020) |Ext. | Reported Trait: Microvessels | — | — | Beta (top 20% vs. rest): 0.072 [-0.037, 0.182] | Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs | — |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS000018 | CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal cor... onary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75.Show more | — | [ ,
45.6 % Male samples | — | European, NR | ~95% European ancestry samples, <5% non-European ancestry | UKB | — |
| PSS000019 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial in... farction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).Show more | — | [ ,
41.29 % Male samples | — | European (French Canadian) | — | CARTaGENE | — |
| PSS000020 | Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), w... here CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).Show more | — | [
| — | European (French Canadian) | — | MHI | Phase 1 |
| PSS000020 | Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), w... here CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).Show more | — | [
| — | European (French Canadian) | — | MHI | Phase 2 |
| PSS000021 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial in... farction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).Show more | — | [ ,
72.7 % Male samples | — | European (French Canadian) | — | MHI | Phase 1 |
| PSS000022 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial in... farction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).Show more | — | [ ,
72.38 % Male samples | — | European (French Canadian) | — | MHI | Phase 2 |
| PSS000287 | (i) Secondary cardiovascular events (sCVE; incl myocardial infarction, stroke, ruptured abdominal ao... rtic aneurysm, fatal cardiac failure, percuteneous of bypass surgery, leg amputation due to cardiovascular causes, cardiovascular death), (ii) atherosclerotic carotid plaque characteristicsShow more | Mean = 3.0 years | 1,319 individuals, 69.3 % Male samples | Mean = 68.8 years Sd = 9.3 years | European (Dutch) | — | AEGS1 | — |
| PSS000331 | CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization eve... nts (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:25717410Show more | 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 eve... nts (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:25717410Show more | 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 eve... nts (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:25717410Show more | 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 eve... nts (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:25717410Show more | 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 eve... nts (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:25717410Show more | 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 eve... nts (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:25717410Show more | 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) |
| PSS000868 | CALIBER rule-based phenotyping algorithms (https://www.caliberresearch.org/portal). ICD-10: I21-I23,... I24.1, I25.2Show more | Median = 6.9 years | [ ,
51.0 % Male samples | Median = 44.0 years IQR = [30.5, 54.7] years | European | — | INTERVAL | — |
| PSS000929 | For GERMIFSI and GERMIFSII, CAD was defined as Myocardinal infarction before the age of 60 and 1 or ... more 1st- degree relative with CAD. In GERMIFSIII CAD was defined as myocardial infarction between the ages of 26 and 74. In GERMIFSIV, cases were based on a CAD diagnosis before age 65 in men or age 70 in women. In Luric, cases were ascertained as >50% angiographic confirmation of vascular obstruction in 1 or more coronary vesselShow more | — | [
| — | European | — | GerMIFS, LURIC | — |