Polygenic Score (PGS) ID: PGS000117

Predicted Trait
Reported Trait Cardiovascular Disease
Mapped Trait(s) cardiovascular disease (EFO_0000319)
Released in PGS Catalog: March 27, 2020
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Terms and Licenses
CC0 1.0 Universal (CC0 1.0) Public Domain Dedication

Score Details

Score Construction
PGS Name CVD_EJ2020
Variants
Original Genome Build GRCh37
Number of Variants 297,862
Development Method
Name Lassosum
Parameters INFO score>0.999; N=1,037,385 variants; s=0.5; lambda=0.00429
PGS Source
PGS Catalog Publication (PGP) ID PGP000054
Citation (link to publication) Elliott J et al. JAMA (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 75.3%
South Asian: 13.6%
East Asian: 6%
Hispanic or Latin American: 2.2%
African: 1.7%
Greater Middle Eastern: 1.2%
187,599 individuals (100%)
Score Development/Training
Multi-ancestry (including European): 100%
  • European
  • East Asian
  • South Asian
  • Additional Asian Ancestries
  • Not Reported
80,103 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • African
  • Not Reported
  • South Asian
  • East Asian
  • Additional Asian Ancestries
10 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST003116
Europe PMC: 26343387
11,323 individuals East Asian
GWAS Catalog: GCST003116
Europe PMC: 26343387
25,557 individuals South Asian
GWAS Catalog: GCST003116
Europe PMC: 26343387
2,268 individuals Greater Middle Eastern (Middle Eastern, North African or Persian)
GWAS Catalog: GCST003116
Europe PMC: 26343387
4,095 individuals Hispanic or Latin American
GWAS Catalog: GCST003116
Europe PMC: 26343387
141,217 individuals European
GWAS Catalog: GCST003116
Europe PMC: 26343387
3,139 individuals African American or Afro-Caribbean
Score Development/Training
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
Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings
[
  • 15,947 cases
  • , 64,156 controls
]
,
68.24 % Male samples
Mean = 60.0 years European, East Asian, South Asian, Asian unspecified, NR 95% European, 0.2% Chinese, 1,4% Indian,0.4%Other Asian, 0.5% Pakistani, 1.1 % Other ancestries UKB Tuning (Case-Control) Set

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM000825 PSS000388|
Multi-ancestry (including European)|
204,675 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (under age 55) C-index: 0.66 [0.65, 0.66] age,sex
PPM000826 PSS000388|
Multi-ancestry (including European)|
204,675 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (under age 55) C-index: 0.7 [0.7, 0.71] pooled cohort equations
PPM000828 PSS000384|
Multi-ancestry (including European)|
147,985 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (over age 55) C-index: 0.7 [0.69, 0.71] age,sex
PPM000829 PSS000384|
Multi-ancestry (including European)|
147,985 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (over age 55) C-index: 0.77 [0.76, 0.78] pooled cohort equations
PPM000831 PSS000392|
Multi-ancestry (including European)|
147,363 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in males) C-index: 0.67 [0.66, 0.67] age,sex
PPM000832 PSS000392|
Multi-ancestry (including European)|
147,363 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in males) C-index: 0.71 [0.71, 0.72] pooled cohort equations
PPM000834 PSS000396|
Multi-ancestry (including European)|
205,297 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in females) C-index: 0.69 [0.68, 0.7] age,sex
PPM000835 PSS000396|
Multi-ancestry (including European)|
205,297 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in females) C-index: 0.74 [0.73, 0.75] pooled cohort equations
PPM000823 PSS000400|
Multi-ancestry (including European)|
352,660 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.75 [0.75, 0.76] pooled cohort equations
PPM000841 PSS000402|
Multi-ancestry (including European)|
350,730 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.75 [0.75, 0.76] QRISK3
PPM000842 PSS000390|
Multi-ancestry (including European)|
203,620 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (over age 55) C-index: 0.7 [0.7, 0.71] QRISK3
PPM000843 PSS000386|
Multi-ancestry (including European)|
147,110 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (under age 55) C-index: 0.77 [0.76, 0.78] QRISK3
PPM000844 PSS000394|
Multi-ancestry (including European)|
146,573 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in males) C-index: 0.71 [0.71, 0.72] QRISK3
PPM000845 PSS000398|
Multi-ancestry (including European)|
204,157 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in females) C-index: 0.74 [0.73, 0.75] QRISK3
PPM000822 PSS000400|
Multi-ancestry (including European)|
352,660 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.71 [0.71, 0.72] age,sex
PPM000824 PSS000388|
Multi-ancestry (including European)|
204,675 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (under age 55) C-index: 0.56 [0.55, 0.56]
PPM000827 PSS000384|
Multi-ancestry (including European)|
147,985 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (over age 55) C-index: 0.59 [0.58, 0.61]
PPM000830 PSS000392|
Multi-ancestry (including European)|
147,363 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in males) C-index: 0.57 [0.56, 0.57]
PPM000833 PSS000396|
Multi-ancestry (including European)|
205,297 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease (in females) C-index: 0.56 [0.55, 0.57]
PPM000821 PSS000400|
Multi-ancestry (including European)|
352,660 individuals
PGP000054 |
Elliott J et al. JAMA (2020)
Reported Trait: Incident cardiovascular disease C-index: 0.56 [0.56, 0.57]

Evaluated Samples

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
PSS000384 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 10,899 cases
  • , 137,086 controls
]
Range = [40.0, 55.0] years European, African unspecified, NR 98.3% White European, 1.7% Black/Other UKB PCE Prospective Cohort (lipid-lowering treatment performed)
PSS000386 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 2,826 cases
  • , 144,284 controls
]
Range = [40.0, 55.0] years European, South Asian, African American or Afro-Caribbean, African unspecified, East Asian, Asian unspecified 2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry UKB QRISK3 Prospective Cohort/Testing Set (lipid-lowering treatment performed)
PSS000388 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 2,854 cases
  • , 201,821 controls
]
Range = [55.0, 69.0] years European, African unspecified, NR 98.3% White European, 1.7% Black/Other UKB PCE Prospective Cohort (lipid-lowering treatment performed)
PSS000390 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 10,824 cases
  • , 192,796 controls
]
Range = [55.0, 69.0] years European, South Asian, African American or Afro-Caribbean, African unspecified, East Asian, Asian unspecified 2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry UKB QRISK3 Prospective Cohort/Testing Set (lipid-lowering treatment performed)
PSS000392 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 8,595 cases
  • , 138,768 controls
]
,
100.0 % Male samples
Mean = 55.79 years
Sd = 8.35 years
European, African unspecified, NR 98.3% White European, 1.7% Black/Other UKB PCE Prospective Cohort (lipid-lowering treatment performed)
PSS000394 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 8,536 cases
  • , 138,037 controls
]
,
100.0 % Male samples
Mean = 55.8 years
Sd = 8.3 years
European, South Asian, African American or Afro-Caribbean, African unspecified, East Asian, Asian unspecified 2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry UKB QRISK3 Prospective Cohort/Testing Set (lipid-lowering treatment performed)
PSS000396 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 5,158 cases
  • , 200,139 controls
]
,
0.0 % Male samples
Mean = 56.0 years
Sd = 8.01 years
European, African unspecified, NR 98.3% White European, 1.7% Black/Other UKB PCE Prospective Cohort (lipid-lowering treatment performed)
PSS000398 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 5,114 cases
  • , 199,043 controls
]
,
0.0 % Male samples
Mean = 56.0 years
Sd = 8.0 years
European, South Asian, African American or Afro-Caribbean, African unspecified, East Asian, Asian unspecified 2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry UKB QRISK3 Prospective Cohort/Testing Set (lipid-lowering treatment performed)
PSS000400 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 13,753 cases
  • , 338,907 controls
]
,
41.8 % Male samples
Mean = 55.9 years
Range = [40.0, 69.0] years
European, African unspecified, NR 98.3% White European, 1.7% Black/Other UKB PCE Prospective Cohort (lipid-lowering treatment performed)
PSS000402 Cardiovascular disease was defined as coronary artery disease, and additionally includes angina, nonhemorrhagic stroke, and transient ischemic attack. ICD-10 codes: G45, I20, I21, I22, I23, I24.1, I25, I63. I64 ICD-9 codes: 410, 411, 412, 413, 414, 434, 436 OPCS-4 codes: K40, K41, K42, K43, K44, K45, K46, K47.1, K49, K50, K75 UKBiobank field 20002 codes: 1074, 1075, 1082, 1548 UKBiobank field 20004 codes: 1070, 1071, 1095, 1105, 1109, 1514 UKBiobank field 6150 codes: 1, 2, 3 See eTable 1 for risk factor codings Mean = 8.01 years
Sd = 1.04 years
[
  • 13,650 cases
  • , 337,080 controls
]
,
41.0 % Male samples
Range = [40.0, 69.0] years European, South Asian, African American or Afro-Caribbean, African unspecified, East Asian, Asian unspecified 2,332 Africans, 145 Bangladeshi, 3,165 Carribeans, 1,136 Chinese, 3,790 Indians, 1,258 Other Asians, 1,182 Pakistani, 332,326 White Europeans and Unkown ancestry UKB QRISK3 Prospective Cohort/Testing Set (lipid-lowering treatment performed)