PGS Publication: PGP000513

Publication Information (EuropePMC)
Title Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
PubMed ID 37845353(Europe PMC)
doi 10.1038/s41588-023-01510-y
Publication Date Oct. 16, 2023
Journal Nat Genet
Author(s) Roychowdhury T, Klarin D, Levin MG, Spin JM, Rhee YH, Deng A, Headley CA, Tsao NL, Gellatly C, Zuber V, Shen F, Hornsby WE, Laursen IH, Verma SS, Locke AE, Einarsson G, Thorleifsson G, Graham SE, Dikilitas O, Pattee JW, Judy RL, Pauls-Verges F, Nielsen JB, Wolford BN, Brumpton BM, Dilmé J, Peypoch O, Juscafresa LC, Edwards TL, Li D, Banasik K, Brunak S, Jacobsen RL, Garcia-Barrio MT, Zhang J, Rasmussen LM, Lee R, Handa A, Wanhainen A, Mani K, Lindholt JS, Obel LM, Strauss E, Oszkinis G, Nelson CP, Saxby KL, van Herwaarden JA, van der Laan SW, van Setten J, Camacho M, Davis FM, Wasikowski R, Tsoi LC, Gudjonsson JE, Eliason JL, Coleman DM, Henke PK, Ganesh SK, Chen YE, Guan W, Pankow JS, Pankratz N, Pedersen OB, Erikstrup C, Tang W, Hveem K, Gudbjartsson D, Gretarsdottir S, Thorsteinsdottir U, Holm H, Stefansson K, Ferreira MA, Baras A, Kullo IJ, Ritchie MD, Christensen AH, Iversen KK, Eldrup N, Sillesen H, Ostrowski SR, Bundgaard H, Ullum H, Burgess S, Gill D, Gallagher K, Sabater-Lleal M, DiscovEHR, Regeneron Genetics Center, UK Aneurysm Growth Study, DBDS Genomic Consortium, VA Million Veteran Program, Surakka I, Jones GT, Bown MJ, Tsao PS, Willer CJ, Damrauer SM.
Released in PGS Catalog: Nov. 1, 2023

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)
PGS003972
(PRSAAA)
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Abdominal aortic aneurysm Abdominal Aortic Aneurysm 1,118,997
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003972/ScoringFiles/PGS003972.txt.gz
PGS003973
(PRSAAA_woUKB)
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Abdominal aortic aneurysm Abdominal Aortic Aneurysm 1,118,997
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003973/ScoringFiles/PGS003973.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
PPM019134 PGS003972
(PRSAAA)
 PSS011199|
European Ancestry|
6,940 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.69 — — —
PPM019135 PGS003972
(PRSAAA)
 PSS011197|
European Ancestry|
7,324 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.66 — — —
PPM019136 PGS003972
(PRSAAA)
 PSS011198|
European Ancestry|
3,768 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.64 — — —
PPM019137 PGS003973
(PRSAAA_woUKB)
 PSS011200|
European Ancestry|
7,517 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — C-index: 0.882 [0.872, 0.892] — Age, Age^2, Sex —

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
PSS011197 — —
[
  • 1,887 cases
  • , 5,437 controls
]
 — European — WTCCC —
PSS011198 — —
[
  • 663 cases
  • , 3,105 controls
]
 — European — UCC-SMART —
PSS011199 — —
[
  • 1,130 cases
  • , 5,810 controls
]
 — European — OxAAA, UKAGS, UKB, UppsalaAAA, VIVA —
PSS011200 — —
[
  • 1,241 cases
  • , 6,276 controls
]
 — European — UKB —