PGS Publication: PGP000721

Publication Information (EuropePMC)
Title Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.
PubMed ID 40133288(Europe PMC)
doi 10.1038/s41467-025-58152-3
Publication Date March 25, 2025
Journal Nat Commun
Author(s) Sadler MC, Apostolov A, Cevallos C, Auwerx C, Ribeiro DM, Altman RB, Kutalik Z.
Released in PGS Catalog: April 17, 2025

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

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)
PGS002150
(portability-ldpred2_LDL)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 LDL direct low density lipoprotein cholesterol measurement 360,007
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002150/ScoringFiles/PGS002150.txt.gz
PGS002108
(portability-ldpred2_cholesterol)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Cholesterol total cholesterol measurement 451,160
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002108/ScoringFiles/PGS002108.txt.gz
PGS002193
(portability-ldpred2_log_pulse_rate)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Pulse rate, automated reading heart rate 858,487
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002193/ScoringFiles/PGS002193.txt.gz
PGS002228
(portability-ldpred2_systolic_BP)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Systolic blood pressure, automated reading systolic blood pressure 937,030
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002228/ScoringFiles/PGS002228.txt.gz
PGS002171
(portability-ldpred2_log_HbA1c)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Glycated haemoglobin (HbA1c) HbA1c measurement 736,730
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002171/ScoringFiles/PGS002171.txt.gz
PGS002172
(portability-ldpred2_log_HDL)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 HDL cholesterol high density lipoprotein cholesterol measurement 732,902
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002172/ScoringFiles/PGS002172.txt.gz

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) 		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
PPM022508 PGS002150
(portability-ldpred2_LDL)
 PSS011978|
European Ancestry|
18,753 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: LDL-C response to statin (absolute difference) β: -0.092 (0.006) — — sex, age and drug-specific covariates beta unit = mmol/L
PPM022509 PGS002150
(portability-ldpred2_LDL)
 PSS011978|
European Ancestry|
18,753 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: LDL-C response to statin (relative logarithmic difference) β: 2.469 (0.202) — — sex, age and drug-specific covariates beta unit = %
PPM022510 PGS002108
(portability-ldpred2_cholesterol)
 PSS011984|
European Ancestry|
28,880 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: Total cholesterol response to statin (absolute difference) β: -0.057 (0.005) — — sex, age and drug-specific covariates beta unit = mmol/L
PPM022511 PGS002108
(portability-ldpred2_cholesterol)
 PSS011984|
European Ancestry|
28,880 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: Total cholesterol response to statin (relative logarithmic difference) β: 0.858 (0.095) — — sex, age and drug-specific covariates beta unit = %
PPM022512 PGS002172
(portability-ldpred2_log_HDL)
 PSS011975|
European Ancestry|
25,405 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: HDL-C response to statin (absolute difference) β: 0.002 (0.001) — — sex, age and drug-specific covariates beta unit = mmol/L
PPM022513 PGS002172
(portability-ldpred2_log_HDL)
 PSS011975|
European Ancestry|
25,405 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: HDL-C response to statin (relative logarithmic difference) β: 0.116 (0.088) — — sex, age and drug-specific covariates beta unit = %
PPM022514 PGS002171
(portability-ldpred2_log_HbA1c)
 PSS011977|
European Ancestry|
4,424 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: HbA1c response to metformin (absolute difference) β: 0.382 (0.246) — — sex, age and drug-specific covariates beta unit = mmol/mol
PPM022515 PGS002171
(portability-ldpred2_log_HbA1c)
 PSS011977|
European Ancestry|
4,424 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: HbA1c response to metformin (relative logarithmic difference) β: 1.003 (0.352) — — sex, age and drug-specific covariates beta unit = %
PPM022516 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011983|
European Ancestry|
8,250 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to antihypertensives (absolute difference) β: -0.456 (0.18) — — sex, age and drug-specific covariates beta unit = mmHg
PPM022517 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011983|
European Ancestry|
8,250 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to antihypertensives (relative logarithmic difference) β: -0.153 (0.121) — — sex, age and drug-specific covariates beta unit = %
PPM022518 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011979|
European Ancestry|
5,034 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to ACEi (absolute difference) β: -0.557 (0.227) — — sex, age and drug-specific covariates beta unit = mmHg
PPM022519 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011979|
European Ancestry|
5,034 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to ACEi (relative logarithmic difference) β: -0.208 (0.153) — — sex, age and drug-specific covariates beta unit = %
PPM022520 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011981|
European Ancestry|
932 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to CCB (absolute difference) β: -0.826 (0.595) — — sex, age and drug-specific covariates beta unit = mmHg
PPM022521 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011981|
European Ancestry|
932 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to CCB (relative logarithmic difference) β: -0.331 (0.392) — — sex, age and drug-specific covariates beta unit = %
PPM022522 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011982|
European Ancestry|
2,145 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to diuretics (absolute difference) β: -0.289 (0.343) — — sex, age and drug-specific covariates beta unit = mmHg
PPM022523 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011982|
European Ancestry|
2,145 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to diuretics (relative logarithmic difference) β: -0.102 (0.228) — — sex, age and drug-specific covariates beta unit = %
PPM022524 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011980|
European Ancestry|
1,750 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to beta blockers (absolute difference) β: -0.094 (0.415) — — sex, age and drug-specific covariates beta unit = mmHg
PPM022525 PGS002228
(portability-ldpred2_systolic_BP)
 PSS011980|
European Ancestry|
1,750 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: SBP response to beta blockers (relative logarithmic difference) β: 0.068 (0.284) — — sex, age and drug-specific covariates beta unit = %
PPM022526 PGS002193
(portability-ldpred2_log_pulse_rate)
 PSS011976|
European Ancestry|
2,157 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: Heart rate response to beta blockers (absolute difference) β: -0.002 (0.299) — — sex, age and drug-specific covariates beta unit = beats/min
PPM022527 PGS002193
(portability-ldpred2_log_pulse_rate)
 PSS011976|
European Ancestry|
2,157 individuals
 PGP000721 |
Sadler MC et al. Nat Commun (2025)
|Ext.		 Reported Trait: Heart rate response to beta blockers (relative logarithmic difference) β: 0.475 (0.38) — — sex, age and drug-specific covariates beta unit = %

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
PSS011975 — — 25,405 individuals — European
(British)		 — UKB —
PSS011976 — — 2,157 individuals — European
(British)		 — UKB —
PSS011977 — — 4,424 individuals — European
(British)		 — UKB —
PSS011978 — — 18,753 individuals — European
(British)		 — UKB —
PSS011979 — — 5,034 individuals — European
(British)		 — UKB —
PSS011980 — — 1,750 individuals — European
(British)		 — UKB —
PSS011981 — — 932 individuals — European
(British)		 — UKB —
PSS011982 — — 2,145 individuals — European
(British)		 — UKB —
PSS011983 — — 8,250 individuals — European
(British)		 — UKB —
PSS011984 — — 28,880 individuals — European
(British)		 — UKB —