| Publication Information (EuropePMC) | |
| Title | Are polygenic risk scores for systolic blood pressure and LDL-cholesterol associated with treatment effectiveness, and clinical outcomes among those on treatment? |
| PubMed ID | 34864974(Europe PMC) |
| doi | 10.1093/eurjpc/zwab192 |
| Publication Date | Dec. 2, 2021 |
| Journal | Eur J Prev Cardiol |
| Author(s) | Tapela NM, Collister J, Liu X, Clifton L, Stiby A, Murgia F, Hopewell JC, Hunter DJ. |
| 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) |
|---|---|---|---|---|---|---|
| PGS002257 (GRS901_SBP) |
PGP000283 | Evangelou E et al. Nat Genet (2018) |
Systolic blood pressure | systolic blood pressure | 884 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002257/ScoringFiles/PGS002257.txt.gz |
| PGS000115 (LDL-C_20) |
PGP000053 | Trinder M et al. JAMA Cardiol (2020) |
LDL cholesterol | low density lipoprotein cholesterol measurement | 223 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000115/ScoringFiles/PGS000115.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM012859 | PGS000115 (LDL-C_20) |
PSS009580| European Ancestry| 33,787 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Uncontrolled hypercholesterolaemia | — | — | Odds Ratio (OR, top vs. bottom quintile): 2.78 [2.58, 3.0] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), and the first four principal components of genetic ancestry, genotyping array and systolic blood pressure at baseline | 218 SNPs remained after QC |
| PPM012860 | PGS000115 (LDL-C_20) |
PSS009577| European Ancestry| 33,787 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident major adverse cardiovascular events in statin treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 1.03 [0.92, 1.14] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), and the first four principal components of genetic ancestry, genotyping array and systolic blood pressure at baseline | 218 SNPs remained after QC |
| PPM012861 | PGS000115 (LDL-C_20) |
PSS009578| European Ancestry| 33,787 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident myocardial infarction in statin treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 1.08 [0.95, 1.23] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), and the first four principal components of genetic ancestry, genotyping array and systolic blood pressure at baseline | 218 SNPs remained after QC |
| PPM012862 | PGS000115 (LDL-C_20) |
PSS009579| European Ancestry| 33,787 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident stroke in statin treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 0.93 [0.77, 1.12] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), and the first four principal components of genetic ancestry, genotyping array and systolic blood pressure at baseline | 218 SNPs remained after QC |
| PPM012863 | PGS002257 (GRS901_SBP) |
PSS009584| European Ancestry| 55,439 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Uncontrolled hypertension | — | — | Odds Ratio (OR, top vs. bottom quintile): 1.7 [1.6, 1.8] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), number of antihypertensives and the first four principal components of genetic ancestry, genotyping array and LDL-C value at baseline | 881 SNPs remained after QC |
| PPM012864 | PGS002257 (GRS901_SBP) |
PSS009581| European Ancestry| 55,439 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident major adverse cardiovascular events in hypertension treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 1.13 [1.04, 1.23] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), number of antihypertensives and the first four principal components of genetic ancestry, genotyping array and LDL-C value at baseline | 881 SNPs remained after QC |
| PPM012865 | PGS002257 (GRS901_SBP) |
PSS009582| European Ancestry| 55,439 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident myocardial infarction in hypertension treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 1.08 [0.97, 1.2] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), number of antihypertensives and the first four principal components of genetic ancestry, genotyping array and LDL-C value at baseline | 881 SNPs remained after QC |
| PPM012866 | PGS002257 (GRS901_SBP) |
PSS009583| European Ancestry| 55,439 individuals |
PGP000284 | Tapela NM et al. Eur J Prev Cardiol (2021) |Ext. |
Reported Trait: Incident stroke in hypertension treatment | — | — | Hazard Ratio (HR, top vs. bottom quintile): 1.22 [1.06, 1.41] | age, sex, socioeconomic characteristics (education, occupation, Townsend deprivation score, and country of residence), metabolic and lifestyle CVD risk factors (smoking status, body mass index, physical activity in METS, and weekly alcohol consumption), family history of CVD (diagnosis at any age), number of antihypertensives and the first four principal components of genetic ancestry, genotyping array and LDL-C value at baseline | 881 SNPs remained after QC |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS009577 | Self-reported statin-use. Uncontrolled hypercholesterolaemia was defined as having baseline LDL-cholesterol >_3 mmol/L, among individuals in the treated hypercholesterolaemia sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.4 years | [ ,
58.5 % Male samples |
Mean = 61.7 years | European (white British) |
— | UKB | — |
| PSS009578 | Self-reported statin-use. Uncontrolled hypercholesterolaemia was defined as having baseline LDL-cholesterol >_3 mmol/L, among individuals in the treated hypercholesterolaemia sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.4 years | [ ,
58.5 % Male samples |
Mean = 61.7 years | European (white British) |
— | UKB | — |
| PSS009579 | Self-reported statin-use. Uncontrolled hypercholesterolaemia was defined as having baseline LDL-cholesterol >_3 mmol/L, among individuals in the treated hypercholesterolaemia sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.4 years | [ ,
58.5 % Male samples |
Mean = 61.7 years | European (white British) |
— | UKB | — |
| PSS009580 | Self-reported statin-use. Uncontrolled hypercholesterolaemia was defined as having baseline LDL-cholesterol >_3 mmol/L, among individuals in the treated hypercholesterolaemia sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.4 years | [ ,
58.5 % Male samples |
Mean = 61.7 years | European (white British) |
— | UKB | — |
| PSS009581 | The treated hypertension sub-cohort was participants who were presently taking antihypertensive medications (indicated by selecting ‘blood pressure medication’ in response to the question ‘Do you regularly take any of the following medications?’ or reporting an antihypertensive medication in a verbal interview with a trained nurse). The antihypertensive medication classes considered were beta-blockers, angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, calcium-channel blocker, alpha blockers, and diuretics. Uncontrolled hypertension was defined as having a mean systolic BP >_140 mmHg or mean diastolic BP >_90 mmHg, among individuals in the treated hypertension sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.5 years | [ ,
51.0 % Male samples |
Mean = 61.0 years | European (white British) |
— | UKB | — |
| PSS009582 | The treated hypertension sub-cohort was participants who were presently taking antihypertensive medications (indicated by selecting ‘blood pressure medication’ in response to the question ‘Do you regularly take any of the following medications?’ or reporting an antihypertensive medication in a verbal interview with a trained nurse). The antihypertensive medication classes considered were beta-blockers, angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, calcium-channel blocker, alpha blockers, and diuretics. Uncontrolled hypertension was defined as having a mean systolic BP >_140 mmHg or mean diastolic BP >_90 mmHg, among individuals in the treated hypertension sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.5 years | [ ,
51.0 % Male samples |
Mean = 61.0 years | European (white British) |
— | UKB | — |
| PSS009583 | The treated hypertension sub-cohort was participants who were presently taking antihypertensive medications (indicated by selecting ‘blood pressure medication’ in response to the question ‘Do you regularly take any of the following medications?’ or reporting an antihypertensive medication in a verbal interview with a trained nurse). The antihypertensive medication classes considered were beta-blockers, angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, calcium-channel blocker, alpha blockers, and diuretics. Uncontrolled hypertension was defined as having a mean systolic BP >_140 mmHg or mean diastolic BP >_90 mmHg, among individuals in the treated hypertension sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.5 years | [ ,
51.0 % Male samples |
Mean = 61.0 years | European (white British) |
— | UKB | — |
| PSS009584 | The treated hypertension sub-cohort was participants who were presently taking antihypertensive medications (indicated by selecting ‘blood pressure medication’ in response to the question ‘Do you regularly take any of the following medications?’ or reporting an antihypertensive medication in a verbal interview with a trained nurse). The antihypertensive medication classes considered were beta-blockers, angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, calcium-channel blocker, alpha blockers, and diuretics. Uncontrolled hypertension was defined as having a mean systolic BP >_140 mmHg or mean diastolic BP >_90 mmHg, among individuals in the treated hypertension sub-cohort. We used prospective follow-up data to assess the composite outcome of incident major adverse cardiovascular events (MACE), which we defined as the first non-fatal stroke (ischaemic or haemorrhagic), non-fatal myocardial infarction, or fatal cardiovascular events, or disease-modifying cardiovascular procedures. We identified MACE components using International Classification of Diseases (ICD-9 and ICD-10) and the Office of Population Censuses and Surveys Classification of Interventions and Procedures version 4 (OPCS-4) codes from Hospital Episodes Statistics (HES) data, and death registries data. | Median = 11.5 years | [ ,
51.0 % Male samples |
Mean = 61.0 years | European (white British) |
— | UKB | — |