PGS Publication: PGP000864

Publication Information (EuropePMC)
Title Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
PubMed ID 38374346(Europe PMC)
doi 10.1038/s41591-024-02796-z
Publication Date Feb. 19, 2024
Journal Nat Med
Author(s) Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T, GIANT Consortium, All of Us Research Program, Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE.
Released in PGS Catalog: Oct. 23, 2026

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:
Display options:
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

PGS Developed 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)
PGS020005
(eMERGE_AF_PRS)
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Atrial fibrillation atrial fibrillation 166
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS020005/ScoringFiles/PGS020005.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
PPM038305 PGS020005
(eMERGE_AF_PRS)
 PSS013914|
European Ancestry|
26,900 individuals
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Reported Trait: Atrial fibrillation OR: 1.44 AUROC: 0.66 — Age, sex, first 4 PCs —
PPM038306 PGS020005
(eMERGE_AF_PRS)
 PSS013911|
African Ancestry|
2,392 individuals
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Reported Trait: Atrial fibrillation OR: 1.29 AUROC: 0.65 — Age, sex, first 4 PCs —
PPM038307 PGS020005
(eMERGE_AF_PRS)
 PSS013912|
African Ancestry|
3,408 individuals
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Reported Trait: Atrial fibrillation OR: 1.25 AUROC: 0.67 — Age, sex, first 4 PCs —
PPM038308 PGS020005
(eMERGE_AF_PRS)
 PSS013915|
Hispanic or Latin American Ancestry|
933 individuals
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Reported Trait: Atrial fibrillation OR: 1.39 AUROC: 0.67 — Age, sex, first 4 PCs —
PPM038309 PGS020005
(eMERGE_AF_PRS)
 PSS013913|
Additional Asian Ancestries|
400 individuals
 PGP000864 |
Lennon NJ et al. Nat Med (2024)
 Reported Trait: Atrial fibrillation OR: 1.64 AUROC: 0.68 — Age, sex, first 4 PCs —

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
PSS013911 — —
[
  • 338 cases
  • , 2,054 controls
]
 — African unspecified — eMERGE —
PSS013912 — —
[
  • 502 cases
  • , 2,906 controls
]
 — African unspecified — eMERGE —
PSS013913 — —
[
  • 45 cases
  • , 355 controls
]
 — Asian unspecified — eMERGE —
PSS013914 — —
[
  • 8,613 cases
  • , 18,287 controls
]
 — European — eMERGE —
PSS013915 — —
[
  • 132 cases
  • , 801 controls
]
 — Hispanic or Latin American — eMERGE —